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.L196L

c.588G>C

Surrounding Variants

1 paper

NM_012259.3

p.H191L

c.572A>T

1 paper

NM_012259.3

p.W185*

c.555G>A

1 paper

NM_012259.3

p.W185*

c.554G>A

1 paper

NM_012259.3

p.P209P

c.627T>G

1 paper

NM_012259.3

p.A221V

c.662C>T

1 paper

NM_012259.3

p.S171insFs

c.512_513insGC

1 paper

NM_012259.3

p.G223V

c.668G>T

1 paper

NM_012259.3

p.A168V

c.503C>T

1 paper

NM_012259.3

p.A167V

c.500C>T

1 paper

NM_012259.3

p.T228M

c.683C>T

1 paper

NM_012259.3

p.E165K

c.493G>A

2 papers

NM_012259.3

p.A229T

c.685G>A