Varaico: Literature-Extracted Genetic Variants

Gene:HAND1
Variant:p.K152N

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
6 papers
NM_004821.3
p.K152N
c.456G>T
Surrounding Variants
1 paper
NM_004821.3
p.K152fs
c.454_455fs
6 papers
NM_004821.3
p.K152N
c.456G>C
1 paper
NM_004821.3
p.K152delFs
c.455delT
1 paper
NM_004821.3
p.K152Q
c.454A>C
1 paper
NM_004821.3
p.A151V
c.452C>T
2 papers
NM_004821.3
p.L150P
c.449T>C
1 paper
NM_004821.3
p.Q155*
c.463C>T
1 paper
NM_004821.3
p.Q155E
c.463C>G
1 paper
NM_004821.3
p.Q155R
c.464A>G
1 paper
NM_004821.3
p.S156P
c.466T>C
1 paper
NM_004821.3
p.V149A
c.446T>C
1 paper
NM_004821.3
p.V149M
c.445G>A
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