Varaico: Literature-Extracted Genetic Variants

Gene:FOXH1
Variant:p.A136S

FOXH1

75 papers

RefSeq Summary

FOXH1 encodes a human homolog of Xenopus forkhead activin signal transducer-1. FOXH1 protein binds SMAD2 and activates an activin response element via binding the DNA motif TGT(G/T)(T/G)ATT. [provided...

Pfam Domains

Forkheadaa 32–117UCSCForkhead domain

Gene Aliases

HGNC Name

forkhead box H1

HGNC Alias Symbol

FAST1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003923.3
p.A136S
c.406G>T
Surrounding Variants
1 paper
NM_003923.3
p.A136insFs
c.406_407dupGC
1 paper
NM_003923.3
p.F140F
c.420C>T
1 paper
NM_003923.3
p.A141T
c.421G>A
2 papers
NM_003923.3
p.R130H
c.389G>A
2 papers
NM_003923.3
p.R129Q
c.386G>A
1 paper
NM_003923.3
p.R129W
c.385C>T
1 paper
NM_003923.3
p.A126_L127del1
c.378_380delAGG
2 papers
NM_003923.3
p.T125S
c.374C>G
2 papers
NM_003923.3
p.T125S
c.373A>T
1 paper
NM_003923.3
p.A119V
c.356C>T
1 paper
NM_003923.3
p.A119E
c.356C>A
1 paper
NM_003923.3
p.A119S
c.355G>T
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