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.Y73*

c.219C>G

Surrounding Variants

1 paper

NM_000538.4

p.Y73*

c.219C>A

1 paper

NM_000538.4

p.A78P

c.232G>C

1 paper

NM_000538.4

p.A60fs

c.178_179fs

1 paper

NM_000538.4

p.Q55*

c.163C>T

1 paper

NM_000538.4

p.A105T

c.313G>A

2 papers

NM_000538.4

p.A39G

c.116C>G

3 papers

NM_000538.4

p.L108*

c.323T>A

1 paper

NM_000538.4

p.E112*

c.334G>T

1 paper

NM_000538.4

p.E115D

c.345G>C

1 paper

NM_000538.4

p.E115D

c.345G>T

1 paper

NM_000538.4

p.H117delFs

c.350delA

1 paper

NM_000538.4

p.G120V

c.359G>T