Varaico: Literature-Extracted Genetic Variants

Gene:FOXL2
Variant:p.D50E

FOXL2

643 papers

RefSeq Summary

This gene encodes a forkhead transcription factor. The protein contains a fork-head DNA-binding domain and may play a role in ovarian development and function. Expansion of a polyalanine repeat region...

Pfam Domains

Forkheadaa 53–139UCSCForkhead domain

Gene Aliases

HGNC Name

forkhead box L2

HGNC Previous Symbol

BPES

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_023067.4
p.D50E
c.150C>G
Surrounding Variants
2 papers
NM_023067.4
p.D50E
c.150C>A
1 paper
NM_023067.4
p.D50H
c.148G>C
1 paper
NM_023067.4
p.G38_P51delFs
c.112_151del40
1 paper
NM_023067.4
p.P49L
c.146C>T
1 paper
NM_023067.4
p.A52G
c.155C>G
13 papers
NM_023067.4
p.Q53*
c.157C>T
3 papers
NM_023067.4
p.K48R
c.143A>G
1 paper
NM_023067.4
p.Q53L
c.158A>T
1 paper
NM_023067.4
p.Q53insFs
c.158_159ins4
2 papers
NM_023067.4
p.K54E
c.160A>G
1 paper
NM_023067.4
p.A52_Q53del2
c.154_158del6
1 paper
NM_023067.4
p.K54R
c.161A>G
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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."