Varaico: Literature-Extracted Genetic Variants

Gene:FOXH1
Variant:p.D328E

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.D328E
c.984C>G
Surrounding Variants
1 paper
NM_003923.3
p.D328E
c.984C>A
1 paper
NM_003923.3
p.F331V
c.991T>G
1 paper
NM_003923.3
p.G333R
c.997G>C
1 paper
NM_003923.3
p.G333R
c.997G>A
1 paper
NM_003923.3
p.G333V
c.998G>T
1 paper
NM_003923.3
p.G333E
c.998G>A
1 paper
NM_003923.3
p.P335S
c.1003C>T
2 papers
NM_003923.3
p.P336L
c.1007C>T
1 paper
NM_003923.3
p.P336R
c.1007C>G
1 paper
NM_003923.3
p.G319V
c.956G>T
2 papers
NM_003923.3
p.S339G
c.1015A>G
1 paper
NM_003923.3
p.Y341fs
c.1021_1022fs
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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."