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

3 papers

NM_002382.5

p.V9delFs

c.25delC

Surrounding Variants

5 papers

NM_002382.5

p.V9L

c.25G>T

5 papers

NM_002382.5

p.V9L

c.25G>C

1 paper

NM_002382.5

p.V9V

c.27G>A

1 paper

NM_002382.5

p.V9M

c.25G>A

3 papers

NM_002382.5

p.V9fs

c.25_26fs

9 papers

NM_002382.5

p.E8*

c.22G>T

1 paper

NM_002382.5

p.I7M

c.21C>G

1 paper

NM_002382.5

p.S11N

c.32G>A

3 papers

NM_002382.5

p.D6D

c.18C>T

1 paper

NM_002382.5

p.D12E

c.36C>G

1 paper

NM_002382.5

p.D12E

c.36C>A

2 papers

NM_002382.5

p.D12_E13Splc

c.36+1G>T