Varaico: Literature-Extracted Genetic Variants

Gene:FOXH1
Variant:p.V112M

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
4 papers
NM_003923.3
p.V112M
c.334G>A
Surrounding Variants
7 papers
NM_003923.3
p.S113T
c.338G>C
1 paper
NM_003923.3
p.A117T
c.349G>A
1 paper
NM_003923.3
p.E118*
c.352G>T
1 paper
NM_003923.3
p.E118K
c.352G>A
1 paper
NM_003923.3
p.A119S
c.355G>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.Q102*
c.304C>T
1 paper
NM_003923.3
p.K100N
c.300G>C
2 papers
NM_003923.3
p.T125S
c.373A>T
2 papers
NM_003923.3
p.T125S
c.374C>G
1 paper
NM_003923.3
p.A126_L127del1
c.378_380delAGG
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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."