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.A237A

c.711C>T

Surrounding Variants

1 paper

NM_012259.3

p.A237T

c.709G>A

1 paper

NM_012259.3

p.R239*

c.715C>T

1 paper

NM_012259.3

p.T230M

c.689C>T

2 papers

NM_012259.3

p.A229T

c.685G>A

1 paper

NM_012259.3

p.T228M

c.683C>T

1 paper

NM_012259.3

p.A247T

c.739G>A

1 paper

NM_012259.3

p.G223V

c.668G>T

1 paper

NM_012259.3

p.A221V

c.662C>T

1 paper

NM_012259.3

p.L260F

c.778C>T

1 paper

NM_012259.3

p.P209P

c.627T>G

1 paper

NM_012259.3

p.A267T

c.799G>A

1 paper

NM_012259.3

p.A270V

c.809C>T