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

1–12 of 40 variants

3 papers

NM_000538.4

p.L108*

c.323T>A

3 papers

NM_000538.4

p.A154insFs

c.460_461insC

2 papers

NM_000538.4

p.A39G

c.116C>G

2 papers

NM_000538.4

p.M137T

c.410T>C

2 papers

NM_000538.4

p.Q181H

c.543G>C

2 papers

NM_000538.4

p.Q181H

c.543G>T

2 papers

NM_000538.4

p.L236_S237Splc

c.709-1G>T

2 papers

NM_000538.4

p.K250Q

c.748A>C

2 papers

NM_000538.4

p.Q251*

c.751C>T

1 paper

NM_000538.4

p.M1T

c.2T>C

1 paper

NM_000538.4

p.Q4H

c.12G>C

1 paper

NM_000538.4

p.Q4H

c.12G>T