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

1–12 of 43 variants

8 papers

NM_014571.4

p.H47R

c.140A>G

2 papers

NM_014571.4

p.P262L

c.785C>T

1 paper

NM_014571.4

p.D19G

c.56A>G

1 paper

NM_014571.4

p.S27fs

c.79_80fs

1 paper

NM_014571.4

p.S39L

c.116C>T

1 paper

NM_014571.4

p.R54W

c.160C>T

1 paper

NM_014571.4

p.S62R

c.184A>C

1 paper

NM_014571.4

p.S62R

c.186C>G

1 paper

NM_014571.4

p.S62R

c.186C>A

1 paper

NM_014571.4

p.L63P

c.188T>C

1 paper

NM_014571.4

p.R67Q

c.200G>A

1 paper

NM_014571.4

p.P71S

c.211C>T