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

1 paper

NM_002382.5

p.K57_A58Splc

c.172-3C>G

Surrounding Variants

1 paper

NM_002382.5

p.S59A

c.175T>G

7 papers

NM_002382.5

p.R60W

c.178C>T

NM_145112.3

p.R51W

c.151C>T

25 papers

NM_002382.5

p.R60Q

c.179G>A

2 papers

NM_002382.5

p.Q62fs

c.184_185fs

1 paper

NM_002382.5

p.L64V

c.190C>G

1 paper

NM_002382.5

p.D65G

c.194A>G

1 paper

NM_002382.5

p.D65A

c.194A>C

2 papers

NM_002382.5

p.A61_D65delFs

c.183_195del13

1 paper

NM_002382.5

p.A67V

c.200C>T

9 papers

NM_002382.5

p.A67D

c.200C>A

1 paper

NM_002382.5

p.E69*

c.205G>T

1 paper

NM_002382.5

p.E69K

c.205G>A