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.L94V

c.280C>G

Surrounding Variants

5 papers

NM_002382.5

p.L94P

c.281T>C

NM_145112.3

p.L85P

c.254T>C

1 paper

NM_002382.5

p.Q91H

c.273G>T

1 paper

NM_002382.5

p.Q91H

c.273G>C

3 papers

NM_002382.5

p.Q91*

c.271C>T

2 papers

NM_002382.5

p.Q97*

c.289C>T

4 papers

NM_002382.5

p.R90P

c.269G>C

NM_145112.3

p.R81P

c.242G>C

1 paper

NM_002382.5

p.Q98fs

c.292_293fs

1 paper

NM_002382.5

p.Q98L

c.293A>T

1 paper

NM_002382.5

p.Q98R

c.293A>G

1 paper

NM_002382.5

p.Q98insFs

c.292dupC

1 paper

NM_002382.5

p.K89*

c.265A>T

4 papers

NM_002382.5

p.V99Splc

c.295+1G>T