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

1–12 of 183 variants

25 papers

NM_002382.5

p.R60Q

c.179G>A

20 papers

NM_002382.5

p.R33*

c.97C>T

16 papers

NM_002382.5

p.R75*

c.223C>T

9 papers

NM_002382.5

p.E8*

c.22G>T

9 papers

NM_002382.5

p.A67D

c.200C>A

7 papers

NM_002382.5

p.R60W

c.178C>T

7 papers

NM_002382.5

p.V99Splc

c.296-1G>T

6 papers

NM_002382.5

p.M74V

c.220A>G

5 papers

NM_002382.5

p.M1V

c.1A>G

5 papers

NM_002382.5

p.V9L

c.25G>T

5 papers

NM_002382.5

p.V9L

c.25G>C

5 papers

NM_002382.5

p.A21_A22Splc

c.64-2A>G