Varaico: Literature-Extracted Genetic Variants

RFXAP

49 papers

RefSeq Summary

Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regu...

Pfam Domains

RFXA_RFXANK_bdgaa 140–267UCSCRegulatory factor X-associated C-terminal binding domain

Gene Aliases

HGNC Name

regulatory factor X associated protein

HGNC Previous Name

regulatory factor X-associated protein

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000538.4

p.M1T

c.2T>C

Surrounding Variants

1 paper

NM_000538.4

p.Q4H

c.12G>C

1 paper

NM_000538.4

p.Q4H

c.12G>T

1 paper

NM_000538.4

p.A10T

c.28G>A

1 paper

NM_000538.4

p.A23V

c.68C>T

2 papers

NM_000538.4

p.A39G

c.116C>G

1 paper

NM_000538.4

p.Q55*

c.163C>T

1 paper

NM_000538.4

p.A60fs

c.178_179fs

1 paper

NM_000538.4

p.Y73*

c.219C>A

1 paper

NM_000538.4

p.Y73*

c.219C>G

1 paper

NM_000538.4

p.A78P

c.232G>C

1 paper

NM_000538.4

p.A105T

c.313G>A

3 papers

NM_000538.4

p.L108*

c.323T>A