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

2 papers

NM_012258.4

p.T285M

c.854C>T

Surrounding Variants

1 paper

NM_012258.4

p.G298E

c.893G>A

1 paper

NM_012258.4

p.H272L

c.815A>T

1 paper

NM_012258.4

p.H272R

c.815A>G

1 paper

NM_012258.4

p.H272Y

c.814C>T

1 paper

NM_012258.4

p.S270insFs

c.810dupC

1 paper

NM_012258.4

p.F268L

c.802T>C

2 papers

NM_012258.4

p.S267Y

c.800C>A

1 paper

NM_012258.4

p.S246A

c.736T>G

1 paper

NM_012258.4

p.S246T

c.736T>A

1 paper

NM_012258.4

p.P213R

c.638C>G

1 paper

NM_012258.4

p.H201_G202del2

c.601_605del6

1 paper

NM_012258.4

p.V183I

c.547G>A