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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DHRS2

DHRS2

202 papers

RefSeq Summary

This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family, which has over 46,000 members. Members of this family are enzymes that metabolize many different compounds, such a...

Pfam Domains

adh_short_C2aa 43–277UCSCEnoyl-(Acyl carrier protein) reductase

Gene Aliases

HGNC Name

dehydrogenase/reductase 2

HGNC Alias Symbols

HEP27; SDR25C1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 109 variants

5 papers

chr14:23639288 G>A

NM_005794.4

p.G84R

c.250G>A

adh_short_C2

Exome: 0.6% (AC=8609, hom=23)Genome: 0.4% (AC=660, hom=2)1 overlapping SV

4 papers

chr14:23639288 G>C

NM_005794.4

p.G84R

c.250G>C

adh_short_C2

exact variant not in gnomAD1 overlapping SV

4 papers

chr14:23639321 G>A

NM_005794.4

p.G95R

c.283G>A

adh_short_C2

Exome: 0.5% (AC=7637, hom=27)Genome: 0.4% (AC=561, hom=2)1 overlapping SV

3 papers

chr14:23639327 G>A

NM_005794.4

p.A97T

c.289G>A

adh_short_C2

Exome: 0.0% (AC=236, hom=1)Genome: 0.0% (AC=8, hom=0)1 overlapping SV

3 papers

chr14:23644425 A>G

NM_005794.4

p.N186S

c.557A>G

adh_short_C2

Exome: 0.5% (AC=8018, hom=33)Genome: 0.4% (AC=607, hom=3)2 overlapping SVs

2 papers

chr14:23638956 A>G

NM_005794.4

p.K31R

c.92A>G

exact variant not in gnomAD1 overlapping SV

2 papers

chr14:23638973 C>T

NM_005794.4

p.R37W

c.109C>T

Exome: 0.1% (AC=876, hom=0)Genome: 0.0% (AC=44, hom=0)1 overlapping SV

2 papers

chr14:23638974 G>A

NM_005794.4

p.R37Q

c.110G>A

Exome: 0.0% (AC=110, hom=0)Genome: 0.0% (AC=12, hom=0)1 overlapping SV

2 papers

chr14:23639211 G>A

NM_005794.4

p.R58Q

c.173G>A

adh_short_C2

Exome: 0.0% (AC=84, hom=3)Genome: 0.0% (AC=8, hom=0)1 overlapping SV

2 papers

chr14:23639216 G>A

NM_005794.4

p.G60R

c.178G>A

adh_short_C2

Exome: 0.0% (AC=53, hom=0)Genome: 0.0% (AC=5, hom=0)1 overlapping SV

2 papers

chr14:23639321 G>C

NM_005794.4

p.G95R

c.283G>C

adh_short_C2

exact variant not in gnomAD1 overlapping SV

2 papers

chr14:23645147 G>A

NM_005794.4

p.G246E

c.737G>A

adh_short_C2

Exome: 0.0% (AC=9, hom=0)Genome: n/a2 overlapping SVs

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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."