Varaico: Literature-Extracted Genetic Variants

Gene:FOXD3
Variant:p.R246H

FOXD3

96 papers

RefSeq Summary

This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. Mutations in this gene cause autoimmune susceptibility 1. [provided by RefSeq, N...

Pfam Domains

Forkheadaa 140–226UCSCForkhead domain

Gene Aliases

HGNC Name

forkhead box D3

HGNC Alias Symbols

Genesis; HFH2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012183.3
p.R246H
c.737G>A
Surrounding Variants
1 paper
NM_012183.3
p.M252L
c.754A>C
1 paper
NM_012183.3
p.M252V
c.754A>G
1 paper
NM_012183.3
p.M252L
c.754A>T
1 paper
NM_012183.3
p.R234W
c.700C>T
2 papers
NM_012183.3
p.A262_R273del12
c.784_818del36
1 paper
NM_012183.3
p.A262T
c.784G>A
1 paper
NM_012183.3
p.A262E
c.785C>A
1 paper
NM_012183.3
p.A268T
c.802G>A
5 papers
NM_012183.3
p.A268G
c.803C>G
2 papers
NM_012183.3
p.R273_L277ins1
c.818_829dup12
2 papers
NM_012183.3
p.E222K
c.664G>A
1 paper
NM_012183.3
p.Y271*
c.813C>A
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