Varaico: Literature-Extracted Genetic Variants

MAX

222 papers

RefSeq Summary

The protein encoded by this gene is a member of the basic helix-loop-helix leucine zipper (bHLHZ) family of transcription factors. It is able to form homodimers and heterodimers with other family memb...

Pfam Domains

HLHaa 15–66UCSCHelix-loop-helix DNA-binding domain

HLHaa 24–75UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

MYC associated factor X

HGNC Alias Symbols

bHLHd4; bHLHd5; bHLHd6; bHLHd7; bHLHd8

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_002382.5

p.A21_A22Splc

c.64-2A>G

Surrounding Variants

1 paper

NM_002382.5

p.A21_A22Splc

c.64-1G>T

1 paper

NM_002382.5

p.D23H

c.67G>C

5 papers

NM_002382.5

p.D23N

c.67G>A

NM_145112.3

p.D14N

c.40G>A

1 paper

NM_002382.5

p.D23D

c.69C>T

4 papers

NM_002382.5

p.K24fs

c.70_71fs

5 papers

NM_002382.5

p.R25W

c.73C>T

NM_145112.3

p.R16W

c.46C>T

1 paper

NM_002382.5

p.R25Q

c.74G>A

4 papers

NM_002382.5

p.K24_R25delFs

c.70_73del4

5 papers

NM_002382.5

p.H28R

c.83A>G

1 paper

NM_002382.5

p.H28Q

c.84T>A

2 papers

NM_002382.5

p.A30P

c.88G>C

1 paper

NM_002382.5

p.A30T

c.88G>A