Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SDR9C7

SDR9C7

47 papers

RefSeq Summary

This gene encodes a protein with similarity to the short-chain dehydrogenase/reductase (SDR) family but has not been shown to have retinoid or dehydrogenase activities. [provided by RefSeq, Apr 2010].

Pfam Domains

adh_shortaa 26–218UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

short chain dehydrogenase/reductase family 9C member 7

HGNC Alias Symbols

SDR-O; RDHS

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 59 variants

7 papers

chr12:56930235 T>C

NM_148897.3

p.D184G

c.551A>G

adh_short

Exome: 0.1% (AC=886, hom=0)Genome: 0.1% (AC=84, hom=0)23 overlapping SVs

5 papers

chr12:56929515 A>G

NM_148897.3

p.I200T

c.599T>C

adh_short

Exome: 0.0% (AC=74, hom=0)Genome: 0.0% (AC=5, hom=0)23 overlapping SVs

4 papers

chr12:56930332 G>A

NM_148897.3

p.R152W

c.454C>T

adh_short

Exome: 0.0% (AC=68, hom=0)Genome: 0.0% (AC=13, hom=0)23 overlapping SVs

4 papers

chr12:56923949 G>A

NM_148897.3

p.R276C

c.826C>T

Exome: 0.0% (AC=20, hom=0)Genome: 0.0% (AC=4, hom=0)23 overlapping SVs

2 papers

chr12:56934150 C>G

NM_148897.3

p.G38R

c.112G>C

adh_short

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)23 overlapping SVs

2 papers

chr12:56934150 C>T

NM_148897.3

p.G38R

c.112G>A

adh_short

Exome: 0.0% (AC=69, hom=0)Genome: 0.0% (AC=4, hom=0)23 overlapping SVs

2 papers

chr12:56934048 G>A

NM_148897.3

p.R72W

c.214C>T

adh_short

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=3, hom=0)23 overlapping SVs

2 papers

chr12:56930421 G>GT

NM_148897.3

p.T122insFs

c.364dupA

adh_short

Exome: 0.0% (AC=27, hom=0)Genome: 0.0% (AC=1, hom=0)23 overlapping SVs

2 papers

chr12:56929552 G>A

NM_148897.3

p.R188C

c.562C>T

adh_short

Exome: 0.0% (AC=54, hom=0)Genome: 0.0% (AC=6, hom=0)23 overlapping SVs

2 papers

chr12:56929551 C>T

NM_148897.3

p.R188H

c.563G>A

adh_short

Exome: 0.0% (AC=175, hom=0)Genome: 0.0% (AC=22, hom=0)23 overlapping SVs

2 papers

chr12:56929497 C>T

NM_148897.3

p.R206Q

c.617G>A

adh_short

Exome: 0.0% (AC=261, hom=1)Genome: 0.0% (AC=12, hom=0)23 overlapping SVs

2 papers

chr12:56929456 G>A

NM_148897.3

p.R220*

c.658C>T

Exome: 0.0% (AC=25, hom=0)Genome: n/a23 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."