Varaico: Literature-Extracted Genetic Variants

Gene:FOXH1
Variant:p.A49T

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.A49T
c.145G>A
Surrounding Variants
2 papers
NM_003923.3
p.A48T
c.142G>A
2 papers
NM_003923.3
p.Q47P
c.140A>C
2 papers
NM_003923.3
p.R52S
c.154C>A
2 papers
NM_003923.3
p.R52H
c.155G>A
2 papers
NM_003923.3
p.L44W
c.131T>G
2 papers
NM_003923.3
p.L44V
c.130T>G
2 papers
NM_003923.3
p.A43P
c.127G>C
2 papers
NM_003923.3
p.K55Q
c.163A>C
2 papers
NM_003923.3
p.L56R
c.167T>G
2 papers
NM_003923.3
p.M41T
c.122T>C
2 papers
NM_003923.3
p.A57P
c.169G>C
1 paper
NM_003923.3
p.P35L
c.104C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."