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

2 papers

NM_002382.5

p.R76delFs

c.228delC

Surrounding Variants

2 papers

NM_002382.5

p.N78fs

c.232_233fs

2 papers

NM_002382.5

p.N78Y

c.232A>T

1 paper

NM_002382.5

p.N78K

c.234C>G

1 paper

NM_002382.5

p.N78fs

c.232_233fs

1 paper

NM_002382.5

p.N78insFs

c.233dupA

1 paper

NM_002382.5

p.N78K

c.234C>A

16 papers

NM_002382.5

p.R75*

c.223C>T

1 paper

NM_002382.5

p.H79fs

c.235_236fs

1 paper

NM_002382.5

p.M74I

c.222G>A

1 paper

NM_002382.5

p.N78_H79insFs

c.234_235dupCC

2 papers

NM_002382.5

p.M74L

c.220A>T

7 papers

NM_002382.5

p.M74V

c.220A>G

NM_145112.3

p.M65V

c.193A>G