Varaico: Literature-Extracted Genetic Variants

Gene:FIGLA
Variant:p.R187H

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
1 paper
NM_001004311.3
p.R187H
c.560G>A
Surrounding Variants
1 paper
NM_001004311.3
p.A185P
c.553G>C
1 paper
NM_001004311.3
p.E181K
c.541G>A
1 paper
NM_001004311.3
p.G180S
c.538G>A
1 paper
NM_001004311.3
p.I196I
c.588T>A
1 paper
NM_001004311.3
p.R201I
c.602G>T
1 paper
NM_001004311.3
p.P173L
c.518C>T
1 paper
NM_001004311.3
p.L166F
c.498G>T
1 paper
NM_001004311.3
p.L166F
c.498G>C
1 paper
NM_001004311.3
p.E143Q
c.427G>C
7 papers
NM_001004311.3
p.S141T
c.422G>C
2 papers
NM_001004311.3
p.N140del1
c.418_419delGTT
1 paper
NM_001004311.3
p.N140I
c.419A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."