Varaico: Literature-Extracted Genetic Variants

NEUROD6

35 papers

RefSeq Summary

This gene is a member of the NEUROD family of basic helix-loop-helix transcription factors. The encoded protein may be involved in the development and differentiation of the nervous system. [provided ...

Pfam Domains

HLHaa 95–147UCSCHelix-loop-helix DNA-binding domain

Neuro_bHLHaa 153–272UCSCNeuronal helix-loop-helix transcription factor

Gene Aliases

HGNC Name

neuronal differentiation 6

HGNC Alias Symbols

Atoh2; NEX1M; Math-2; bHLHa2; Nex1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022728.4

p.Y236Y

c.708T>C

Surrounding Variants

1 paper

NM_022728.4

p.A239V

c.716C>T

1 paper

NM_022728.4

p.A239A

c.717G>A

1 paper

NM_022728.4

p.E245V

c.734A>T

1 paper

NM_022728.4

p.T247T

c.741T>C

1 paper

NM_022728.4

p.Q255*

c.763C>T

1 paper

NM_022728.4

p.T217A

c.649A>G

1 paper

NM_022728.4

p.T206N

c.617C>A

1 paper

NM_022728.4

p.G269R

c.805G>C

1 paper

NM_022728.4

p.G269R

c.805G>A

1 paper

NM_022728.4

p.A197T

c.589G>A

1 paper

NM_022728.4

p.Q192H

c.576G>T

1 paper

NM_022728.4

p.Q192H

c.576G>C