Varaico: Literature-Extracted Genetic Variants

HEY1

67 papers

RefSeq Summary

This gene encodes a nuclear protein belonging to the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcriptional repressors. Expression of this gene is indu...

Pfam Domains

HLHaa 50–105UCSCHelix-loop-helix DNA-binding domain

Hairy_orangeaa 122–163UCSCHairy Orange

Gene Aliases

HGNC Name

hes related family bHLH transcription factor with YRPW motif 1

HGNC Alias Symbols

HESR-1; CHF2; HESR1; HRT-1; CHF-2; HERP2; bHLHb31

Papers

RefSeq ID

Protein change

DNA change

1–12 of 44 variants

4 papers

NM_012258.4

p.L94M

c.280C>A

2 papers

NM_012258.4

p.S267Y

c.800C>A

2 papers

NM_012258.4

p.T285M

c.854C>T

1 paper

NM_012258.4

p.M1insFs

c.2dupT

1 paper

NM_012258.4

p.M1_K2insFs

c.3_4insA

1 paper

NM_012258.4

p.R3G

c.7C>G

1 paper

NM_012258.4

p.H5P

c.14A>C

1 paper

NM_012258.4

p.S11delFs

c.33delC

1 paper

NM_012258.4

p.E20insFs

c.58_59ins7

1 paper

NM_012258.4

p.K23*

c.67A>T

1 paper

NM_012258.4

p.K23delFs

c.67_68delTT

1 paper

NM_012258.4

p.S25T

c.74G>C