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

Selected Variant

1 paper

NM_012258.4

p.S34*

c.101C>A

Surrounding Variants

1 paper

NM_012258.4

p.A35V

c.104C>T

1 paper

NM_012258.4

p.G30Splc

c.90-2A>T

1 paper

NM_012258.4

p.S44F

c.131C>T

1 paper

NM_012258.4

p.R53G

c.157C>G

1 paper

NM_012258.4

p.D63N

c.187G>A

1 paper

NM_012258.4

p.R64R

c.192G>A

1 paper

NM_012258.4

p.N67_S68delFs

c.201_202delTG

1 paper

NM_012258.4

p.N67_S68del2

c.199_203del6

1 paper

NM_012258.4

p.R74T

c.221G>C

1 paper

NM_012258.4

p.L75_V76insFs

c.225_226insAC

1 paper

NM_012258.4

p.D27Y

c.79G>T

1 paper

NM_012258.4

p.S25T

c.74G>C