Varaico: Literature-Extracted Genetic Variants

Gene:FOXL2
Variant:p.L130Q

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
1 paper
NM_023067.4
p.L130Q
c.389T>A
Surrounding Variants
1 paper
NM_023067.4
p.L130P
c.389T>C
1 paper
NM_023067.4
p.L130fs
c.388_389fs
1 paper
NM_023067.4
p.T129delFs
c.387delC
1 paper
NM_023067.4
p.D131fs
c.391_392fs
1 paper
NM_023067.4
p.T129M
c.386C>T
1 paper
NM_023067.4
p.L130delFs
c.390delC
1 paper
NM_023067.4
p.W128delFs
c.384delC
2 papers
NM_023067.4
p.W128C
c.384G>T
2 papers
NM_023067.4
p.W128C
c.384G>C
6 papers
NM_023067.4
p.W128*
c.384G>A
1 paper
NM_023067.4
p.P132fs
c.394_395fs
2 papers
NM_023067.4
p.P132S
c.394C>T
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