Varaico: Literature-Extracted Genetic Variants

Gene:HAND1
Variant:p.Y72F

HAND1

71 papers

RefSeq Summary

The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asy...

Pfam Domains

HLHaa 95–147UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

heart and neural crest derivatives expressed 1

HGNC Alias Symbols

eHand; Thing1; Hxt; bHLHa27

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004821.3
p.Y72F
c.215A>T
Surrounding Variants
1 paper
NM_004821.3
p.Y72C
c.215A>G
6 papers
NM_004821.3
p.G73S
c.217G>A
1 paper
NM_004821.3
p.A76T
c.226G>A
1 paper
NM_004821.3
p.A67V
c.200C>T
1 paper
NM_004821.3
p.Q80R
c.239A>G
1 paper
NM_004821.3
p.G83R
c.247G>C
1 paper
NM_004821.3
p.G83R
c.247G>A
1 paper
NM_004821.3
p.P61L
c.182C>T
1 paper
NM_004821.3
p.P61S
c.181C>T
2 papers
NM_004821.3
p.R84L
c.251G>T
1 paper
NM_004821.3
p.R84R
c.252G>T
4 papers
NM_004821.3
p.A58E
c.173C>A
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