Varaico: Literature-Extracted Genetic Variants

HEYL

52 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 sequence of the encoded protein contains a conserve...

Pfam Domains

HLHaa 44–99UCSCHelix-loop-helix DNA-binding domain

Hairy_orangeaa 116–158UCSCHairy Orange

Gene Aliases

HGNC Name

hes related family bHLH transcription factor with YRPW motif like

HGNC Alias Symbols

bHLHb33; HEY3; HESR3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014571.4

p.R198S

c.594A>T

Surrounding Variants

1 paper

NM_014571.4

p.R198S

c.594A>C

1 paper

NM_014571.4

p.V203F

c.607G>T

1 paper

NM_014571.4

p.N191I

c.572A>T

1 paper

NM_014571.4

p.R218*

c.652C>T

1 paper

NM_014571.4

p.R218Q

c.653G>A

1 paper

NM_014571.4

p.T226I

c.677C>T

1 paper

NM_014571.4

p.R233W

c.697C>T

1 paper

NM_014571.4

p.S163L

c.488C>T

1 paper

NM_014571.4

p.E161K

c.481G>A

1 paper

NM_014571.4

p.E159K

c.475G>A

1 paper

NM_014571.4

p.A158A

c.474C>A

1 paper

NM_014571.4

p.N154delFs

c.462delG