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

1–12 of 39 variants

1 paper

NM_022728.4

p.L2*

c.5T>G

1 paper

NM_022728.4

p.L2*

c.5T>A

1 paper

NM_022728.4

p.P34L

c.101C>T

1 paper

NM_022728.4

p.E60Q

c.178G>C

1 paper

NM_022728.4

p.E66V

c.197A>T

1 paper

NM_022728.4

p.G72E

c.215G>A

1 paper

NM_022728.4

p.K82fs

c.244_245fs

1 paper

NM_022728.4

p.K83fs

c.247_248fs

1 paper

NM_022728.4

p.A99V

c.296C>T

1 paper

NM_022728.4

p.A101A

c.303G>A

1 paper

NM_022728.4

p.R102H

c.305G>A

1 paper

NM_022728.4

p.E103K

c.307G>A