Varaico: Literature-Extracted Genetic Variants

Gene:FIGLA
Variant:p.Y113*

FIGLA

52 papers

RefSeq Summary

This gene encodes a protein that functions in postnatal oocyte-specific gene expression. The protein is a basic helix-loop-helix transcription factor that regulates multiple oocyte-specific genes, inc...

Pfam Domains

HLHaa 66–118UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

folliculogenesis specific bHLH transcription factor

HGNC Alias Symbols

bHLHc8; Figalpha

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001004311.3
p.Y113*
c.339T>G
Surrounding Variants
2 papers
NM_001004311.3
p.Y113*
c.339T>A
1 paper
NM_001004311.3
p.Y113C
c.338A>G
1 paper
NM_001004311.3
p.Q115E
c.343C>G
1 paper
NM_001004311.3
p.L117F
c.349C>T
2 papers
NM_001004311.3
p.G109D
c.326G>A
1 paper
NM_001004311.3
p.L120I
c.358C>A
2 papers
NM_001004311.3
p.L107F
c.319C>T
3 papers
NM_001004311.3
p.E122fs
c.364_365fs
3 papers
NM_001004311.3
p.E122delFs
c.364delC
1 paper
NM_001004311.3
p.G123A
c.368G>C
1 paper
NM_001004311.3
p.K103*
c.307A>T
1 paper
NM_001004311.3
p.D126delFs
c.377delT
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