Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C4
Variant:p.L288fs

AKR1C4

311 papers

RefSeq Summary

This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their co...

Pfam Domains

Aldo_ket_redaa 18–301UCSCAldo/keto reductase family

Gene Aliases

HGNC Name

aldo-keto reductase family 1 member C4

HGNC Previous Symbol

CHDR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001818.5
p.L288fs
c.862_863fs
Surrounding Variants
2 papers
NM_001818.5
p.T289A
c.865A>G
1 paper
NM_001818.5
p.N300T
c.899A>C
1 paper
NM_001818.5
p.R301R
c.901A>C
1 paper
NM_001818.5
p.M308T
c.923T>C
1 paper
NM_001818.5
p.Q282_V283Splc
c.847-103G>A
1 paper
NM_001818.5
p.Q282_V283Splc
c.847-605G>A
1 paper
NM_001818.5
p.Q282_V283Splc
c.847-1332C>T
27 papers
NM_001818.5
p.L311V
c.931C>G
1 paper
NM_001818.5
p.L311F
c.931C>T
1 paper
NM_001818.5
p.M312T
c.935T>C
1 paper
NM_001818.5
p.M312I
c.936G>A
1 paper
NM_001818.5
p.M312I
c.936G>C
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