Varaico: Literature-Extracted Genetic Variants

Gene:HAND1
Variant:p.E165K

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.E165K
c.493G>A
Surrounding Variants
1 paper
NM_004821.3
p.E165Q
c.493G>C
1 paper
NM_004821.3
p.A161T
c.481G>A
1 paper
NM_004821.3
p.A169E
c.506C>A
1 paper
NM_004821.3
p.G171insFs
c.512_513insGC
2 papers
NM_004821.3
p.G172D
c.515G>A
1 paper
NM_004821.3
p.S156S
c.468T>G
1 paper
NM_004821.3
p.S156P
c.466T>C
1 paper
NM_004821.3
p.Q155R
c.464A>G
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.R177W
c.529C>T
6 papers
NM_004821.3
p.K152N
c.456G>T
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