Varaico: Literature-Extracted Genetic Variants

Gene:DHRS7
Variant:p.N319S

DHRS7

27 papers

RefSeq Summary

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

Pfam Domains

adh_shortaa 51–249UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

dehydrogenase/reductase 7

HGNC Alias Symbols

retDSR4; SDR34C1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016029.4
p.N319S
c.956A>G
Surrounding Variants
1 paper
NM_016029.4
p.I317T
c.950T>C
1 paper
NM_016029.4
p.V324_D325Splc
c.972+1G>A
1 paper
NM_016029.4
p.K311E
c.931A>G
1 paper
NM_016029.4
p.R271Q
c.812G>A
1 paper
NM_016029.4
p.R271G
c.811C>G
1 paper
NM_016029.4
p.S261fs
c.781_782fs
1 paper
NM_016029.4
p.I241L
c.721A>C
1 paper
NM_016029.4
p.R218*
c.652C>T
1 paper
NM_016029.4
p.L217delFs
c.651delA
1 paper
NM_016029.4
p.S196C
c.587C>G
1 paper
NM_016029.4
p.L161F
c.481C>T
1 paper
NM_016029.4
p.S145fs
c.433_434fs
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