Varaico: Literature-Extracted Genetic Variants

Gene:FOXE3
Variant:p.A234P

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
1 paper
NM_012186.3
p.A234P
c.700G>C
Surrounding Variants
9 papers
NM_012186.3
p.P235delFs
c.705delC
2 papers
NM_012186.3
p.E236fs
c.706_707fs
5 papers
NM_012186.3
p.E236fs
c.706_707fs
1 paper
NM_012186.3
p.E236G
c.707A>G
1 paper
NM_012186.3
p.A230S
c.688G>T
3 papers
NM_012186.3
p.A230fs
c.688_689fs
1 paper
NM_012186.3
p.C239W
c.717C>G
1 paper
NM_012186.3
p.C239C
c.717C>T
1 paper
NM_012186.3
p.E228K
c.682G>A
26 papers
NM_012186.3
p.C240*
c.720C>A
5 papers
NM_012186.3
p.L229insFs
c.685_686ins8
1 paper
NM_012186.3
p.D244_A245del2
c.730_734del6
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