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.Y73S

c.218A>C

Surrounding Variants

1 paper

NM_002382.5

p.Y73F

c.218A>T

1 paper

NM_002382.5

p.Q72_Y73insFs

c.216_217insAC

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

2 papers

NM_002382.5

p.M74L

c.220A>C

2 papers

NM_002382.5

p.Y70_Y73del4

c.208_218del12

1 paper

NM_002382.5

p.Q72R

c.215A>G

1 paper

NM_002382.5

p.M74I

c.222G>A

16 papers

NM_002382.5

p.R75*

c.223C>T

4 papers

NM_002382.5

p.I71S

c.212T>G

NM_145112.3

p.I62S

c.185T>G

1 paper

NM_002382.5

p.I71N

c.212T>A

1 paper

NM_002382.5

p.Y70fs

c.208_209fs