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

1–12 of 77 variants

2 papers

NM_012259.3

p.T43S

c.127A>T

2 papers

NM_012259.3

p.Q45H

c.135G>C

2 papers

NM_012259.3

p.Q45H

c.135G>T

2 papers

NM_012259.3

p.L68S

c.203T>C

2 papers

NM_012259.3

p.T96A

c.286A>G

2 papers

NM_012259.3

p.D98A

c.293A>C

2 papers

NM_012259.3

p.L100S

c.299T>C

2 papers

NM_012259.3

p.G110Splc

c.328+6T>C

2 papers

NM_012259.3

p.L196L

c.588G>C

2 papers

NM_012259.3

p.A229T

c.685G>A

2 papers

NM_012259.3

p.A299G

c.896C>G

1 paper

NM_012259.3

p.M1insFs

c.2dupT