Varaico: Literature-Extracted Genetic Variants

Gene:FOXE3
Variant:p.H121R

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.H121R
c.362A>G
Surrounding Variants
3 papers
NM_012186.3
p.R120P
c.359G>C
6 papers
NM_012186.3
p.R120G
c.358C>G
2 papers
NM_012186.3
p.R120C
c.358C>T
1 paper
NM_012186.3
p.I119delFs
c.357delC
2 papers
NM_012186.3
p.T124P
c.370A>C
2 papers
NM_012186.3
p.T124M
c.371C>T
11 papers
NM_012186.3
p.N117K
c.351C>A
11 papers
NM_012186.3
p.N117K
c.351C>G
1 paper
NM_012186.3
p.N126N
c.378C>T
4 papers
NM_012186.3
p.W115*
c.345G>A
4 papers
NM_012186.3
p.W115*
c.344G>A
1 paper
NM_012186.3
p.C128Y
c.383G>A
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