Varaico: Literature-Extracted Genetic Variants

HEY2

68 papers

RefSeq Summary

This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The encoded protein forms homo- or hetero-dimers that l...

Pfam Domains

HLHaa 49–104UCSCHelix-loop-helix DNA-binding domain

Hairy_orangeaa 123–162UCSCHairy Orange

Gene Aliases

HGNC Name

hes related family bHLH transcription factor with YRPW motif 2

HGNC Alias Symbols

bHLHb32; HERP1; HESR2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012259.3

p.E91D

c.273A>T

Surrounding Variants

1 paper

NM_012259.3

p.K89K

c.267A>G

1 paper

NM_012259.3

p.K89N

c.267A>T

1 paper

NM_012259.3

p.M95L

c.283A>T

2 papers

NM_012259.3

p.T96A

c.286A>G

1 paper

NM_012259.3

p.T96T

c.288A>G

1 paper

NM_012259.3

p.K86R

c.257A>G

1 paper

NM_012259.3

p.V97M

c.289G>A

1 paper

NM_012259.3

p.A85E

c.254C>A

1 paper

NM_012259.3

p.A85V

c.254C>T

2 papers

NM_012259.3

p.D98A

c.293A>C

1 paper

NM_012259.3

p.D98G

c.293A>G

2 papers

NM_012259.3

p.L100S

c.299T>C