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

2 papers

NM_012259.3

p.T43S

c.127A>T

Surrounding Variants

1 paper

NM_012259.3

p.T42A

c.124A>G

1 paper

NM_012259.3

p.Q45L

c.134A>T

2 papers

NM_012259.3

p.Q45H

c.135G>C

2 papers

NM_012259.3

p.Q45H

c.135G>T

1 paper

NM_012259.3

p.S33A

c.97T>G

1 paper

NM_012259.3

p.G28Splc

c.84-28C>T

1 paper

NM_012259.3

p.G28Splc

c.84-94C>G

1 paper

NM_012259.3

p.G54_I55Splc

c.163-13T>C

1 paper

NM_012259.3

p.E57D

c.171G>C

1 paper

NM_012259.3

p.E57D

c.171G>T

1 paper

NM_012259.3

p.R61Q

c.182G>A

2 papers

NM_012259.3

p.L68S

c.203T>C