Varaico: Literature-Extracted Genetic Variants

Gene:FIGLA
Variant:p.D28E

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
3 papers
NM_001004311.3
p.D28E
c.84C>G
Surrounding Variants
3 papers
NM_001004311.3
p.D28E
c.84C>A
1 paper
NM_001004311.3
p.A12_L17delFs
c.36_49del14
3 papers
NM_001004311.3
p.A41V
c.122C>T
3 papers
NM_001004311.3
p.P5_A12delFs
c.15_36del22
1 paper
NM_001004311.3
p.R45Q
c.134G>A
1 paper
NM_001004311.3
p.R45R
c.135G>A
1 paper
NM_001004311.3
p.R11H
c.32G>A
2 papers
NM_001004311.3
p.G6fs
c.16_17fs
1 paper
NM_001004311.3
p.G6fs
c.16_17fs
9 papers
NM_001004311.3
p.A4E
c.11C>A
1 paper
NM_001004311.3
p.M1I
c.3G>T
1 paper
NM_001004311.3
p.M1I
c.3G>C
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