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.R36W

c.106A>T

Surrounding Variants

1 paper

NM_002382.5

p.R36K

c.107G>A

2 papers

NM_002382.5

p.R35L

c.104G>T

2 papers

NM_002382.5

p.R35H

c.104G>A

6 papers

NM_002382.5

p.R35C

c.103C>T

NM_145112.3

p.R26C

c.76C>T

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.K34fs

c.100_101fs

1 paper

NM_002382.5

p.K34_D37delFs

c.100_110del11

1 paper

NM_002382.5

p.R33Q

c.98G>A

21 papers

NM_002382.5

p.R33*

c.97C>T

NM_145112.3

p.R24*

c.70C>T

1 paper

NM_002382.5

p.E32D

c.96A>T

1 paper

NM_002382.5

p.E32D

c.96A>C