Varaico: Literature-Extracted Genetic Variants

Gene:FOXH1
Variant:p.L254L

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.L254L
c.760T>C
Surrounding Variants
1 paper
NM_003923.3
p.W250S
c.749G>C
3 papers
NM_003923.3
p.R248W
c.742A>T
2 papers
NM_003923.3
p.R264W
c.790C>T
1 paper
NM_003923.3
p.P240ins0
c.718_720dupCCC
1 paper
NM_003923.3
p.P240del1
c.718_720delGGG
1 paper
NM_003923.3
p.H269Q
c.807C>G
1 paper
NM_003923.3
p.H269Q
c.807C>A
1 paper
NM_003923.3
p.R270M
c.809G>T
1 paper
NM_003923.3
p.A237fs
c.709_710fs
1 paper
NM_003923.3
p.A271insFs
c.811_812ins17
1 paper
NM_003923.3
p.G235R
c.703G>C
1 paper
NM_003923.3
p.G235R
c.703G>A
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