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.E56A

c.167A>C

Surrounding Variants

1 paper

NM_002382.5

p.K57Q

c.169A>C

1 paper

NM_002382.5

p.G55V

c.164G>T

1 paper

NM_002382.5

p.K57R

c.170A>G

4 papers

NM_002382.5

p.K57_A58Splc

c.171+1G>A

4 papers

NM_002382.5

p.K57_A58Splc

c.171+2T>A

1 paper

NM_002382.5

p.Q54R

c.161A>G

2 papers

NM_002382.5

p.Q54delFs

c.160delG

2 papers

NM_002382.5

p.Q54fs

c.160_161fs

4 papers

NM_002382.5

p.R47_L53del0

c.140_157del18

2 papers

NM_002382.5

p.S52*

c.155C>G

2 papers

NM_002382.5

p.S52*

c.155C>A

1 paper

NM_002382.5

p.P51L

c.152C>T