Varaico: Literature-Extracted Genetic Variants

Gene:FOXE3
Variant:p.P139A

FOXE3

160 papers

RefSeq Summary

This intronless gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. The protein encoded functions as a lens-specific transcription facto...

Pfam Domains

Forkheadaa 70–156UCSCForkhead domain

Gene Aliases

HGNC Name

forkhead box E3

HGNC Previous Symbol

FKHL12

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_012186.3
p.P139A
c.415C>G
Surrounding Variants
1 paper
NM_012186.3
p.G140R
c.418G>C
7 papers
NM_012186.3
p.G137D
c.410G>A
1 paper
NM_012186.3
p.G137A
c.410G>C
1 paper
NM_012186.3
p.K141K
c.423G>A
2 papers
NM_012186.3
p.E135G
c.404A>G
2 papers
NM_012186.3
p.Y144_W145del1
c.431_433delACT
6 papers
NM_012186.3
p.Y144C
c.431A>G
1 paper
NM_012186.3
p.W145_D148delFs
c.434_443del10
4 papers
NM_012186.3
p.F129L
c.387C>A
4 papers
NM_012186.3
p.F129L
c.387C>G
2 papers
NM_012186.3
p.P149S
c.445C>T
4 papers
NM_012186.3
p.F129L
c.385T>C
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