Varaico: Literature-Extracted Genetic Variants

Gene:FOXH1
Variant:p.S18S

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
1 paper
NM_003923.3
p.S18S
c.54C>T
Surrounding Variants
1 paper
NM_003923.3
p.Q19*
c.55C>T
2 papers
NM_003923.3
p.P20S
c.58C>T
2 papers
NM_003923.3
p.P20T
c.58C>A
4 papers
NM_003923.3
p.P21S
c.61C>T
2 papers
NM_003923.3
p.P21H
c.62C>A
1 paper
NM_003923.3
p.P11insFs
c.31dupC
2 papers
NM_003923.3
p.K26R
c.77A>G
1 paper
NM_003923.3
p.Y28F
c.83A>T
1 paper
NM_003923.3
p.K26_R30delFs
c.76_88del13
1 paper
NM_003923.3
p.G6A
c.17G>C
2 papers
NM_003923.3
p.H31Y
c.91C>T
1 paper
NM_003923.3
p.G6R
c.16G>C
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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."