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

4 papers

NM_002382.5

p.L102P

c.305T>C

NM_145112.3

p.L93P

c.278T>C

Surrounding Variants

2 papers

NM_002382.5

p.E103*

c.307G>T

1 paper

NM_002382.5

p.R100R

c.300T>A

1 paper

NM_002382.5

p.R100L

c.299G>T

4 papers

NM_002382.5

p.R100P

c.299G>C

1 paper

NM_002382.5

p.K104N

c.312G>T

1 paper

NM_002382.5

p.K104N

c.312G>C

7 papers

NM_002382.5

p.V99Splc

c.296-1G>T

1 paper

NM_002382.5

p.R106K

c.317G>A

1 paper

NM_145112.3

p.L102P

c.305T>C

1 paper

NM_002382.5

p.R100_Q110del11

c.298_329del33

1 paper

NM_002382.5

p.L111L

c.333G>A

1 paper

NM_145112.3

p.N105T

c.314A>C