Varaico: Literature-Extracted Genetic Variants

ADH7

101 papers

RefSeq Summary

This gene encodes class IV alcohol dehydrogenase 7 mu or sigma subunit, which is a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including...

Pfam Domains

ADH_Naa 33–162UCSCAlcohol dehydrogenase GroES-like domain

ADH_Naa 45–174UCSCAlcohol dehydrogenase GroES-like domain

ADH_zinc_Naa 214–350UCSCZinc-binding dehydrogenase

Gene Aliases

HGNC Name

alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide

HGNC Alias Symbol

ADH-4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000673.7

p.A12fs

c.34_35fs

Surrounding Variants

1 paper

NM_000673.7

p.C10S

c.29G>C

1 paper

NM_000673.7

p.C10S

c.28T>A

2 papers

NM_000673.7

p.E17*

c.49G>T

1 paper

NM_000673.7

p.K6_V7Splc

c.19-37T>C

1 paper

NM_000673.7

p.R48H

c.143G>A

3 papers

NM_000673.7

p.T49I

c.146C>T

1 paper

NM_000673.7

p.K55E

c.163A>G

1 paper

NM_000673.7

p.I54_K55insFs

c.162_163dupAA

2 papers

NM_000673.7

p.G56R

c.166G>C

2 papers

NM_000673.7

p.G56R

c.166G>A

1 paper

NM_000673.7

p.M58I

c.174G>C

1 paper

NM_000673.7

p.S60Y

c.179C>A