Varaico: Literature-Extracted Genetic Variants

Gene:HAND1
Variant:p.P18L

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.P18L
c.53C>T
Surrounding Variants
1 paper
NM_004821.3
p.P18H
c.53C>A
1 paper
NM_004821.3
p.P18S
c.52C>T
1 paper
NM_004821.3
p.P18A
c.52C>G
1 paper
NM_004821.3
p.H20R
c.59A>G
1 paper
NM_004821.3
p.P16S
c.46C>T
1 paper
NM_004821.3
p.H15L
c.44A>T
1 paper
NM_004821.3
p.M22T
c.65T>C
1 paper
NM_004821.3
p.L23F
c.67C>T
2 papers
NM_004821.3
p.H13Y
c.37C>T
1 paper
NM_004821.3
p.H24H
c.72C>T
1 paper
NM_004821.3
p.P26S
c.76C>T
2 papers
NM_004821.3
p.H10Y
c.28C>T
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