Varaico: Literature-Extracted Genetic Variants

Gene:SDR9C7
Variant:p.R220*

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
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_148897.3
p.R220*
c.658C>T
Surrounding Variants
1 paper
NM_148897.3
p.E224delFs
c.670_671delTC
2 papers
NM_148897.3
p.R206Q
c.617G>A
1 paper
NM_148897.3
p.G235R
c.703G>C
1 paper
NM_148897.3
p.G235R
c.703G>A
1 paper
NM_148897.3
p.G235E
c.704G>A
5 papers
NM_148897.3
p.I200T
c.599T>C
2 papers
NM_148897.3
p.R188H
c.563G>A
2 papers
NM_148897.3
p.R188C
c.562C>T
1 paper
NM_148897.3
p.R187K
c.560G>A
1 paper
NM_148897.3
p.R187K
c.560G>A
7 papers
NM_148897.3
p.D184G
c.551A>G
1 paper
NM_148897.3
p.F177L
c.531T>G
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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."