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.F43V

c.127T>G

Surrounding Variants

1 paper

NM_002382.5

p.F43L

c.127T>C

1 paper

NM_002382.5

p.S42I

c.125G>T

1 paper

NM_002382.5

p.L46V

c.136T>G

1 paper

NM_002382.5

p.L46F

c.138G>C

1 paper

NM_002382.5

p.R47W

c.139C>T

1 paper

NM_002382.5

p.K34_D37delFs

c.100_110del11

1 paper

NM_002382.5

p.D48A

c.143A>C

1 paper

NM_002382.5

p.D37V

c.110A>T

1 paper

NM_002382.5

p.D37G

c.110A>G

1 paper

NM_002382.5

p.S49P

c.145T>C

3 papers

NM_002382.5

p.S49*

c.146C>G

2 papers

NM_002382.5

p.S49*

c.146C>A