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.V309I

c.925G>A

Surrounding Variants

1 paper

NM_012259.3

p.S308L

c.923C>T

1 paper

NM_012259.3

p.P315S

c.943C>T

2 papers

NM_012259.3

p.A299G

c.896C>G

1 paper

NM_012259.3

p.A296V

c.887C>T

1 paper

NM_012259.3

p.G331V

c.992G>T

1 paper

NM_012259.3

p.A285T

c.853G>A

1 paper

NM_012259.3

p.A283_G284insFs

c.849_850insTG

1 paper

NM_012259.3

p.A283V

c.848C>T

1 paper

NM_012259.3

p.A283T

c.847G>A

1 paper

NM_012259.3

p.A336G

c.1007C>G

1 paper

NM_012259.3

p.A275G

c.824C>G

1 paper

NM_012259.3

p.A273T

c.817G>A