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

2 papers

NM_000538.4

p.L236_S237Splc

c.709-1G>T

Surrounding Variants

1 paper

NM_000538.4

p.L238*

c.713T>A

1 paper

NM_000538.4

p.L238*

c.713T>G

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.L236L

c.708G>A

1 paper

NM_000538.4

p.G215V

c.644G>T

1 paper

NM_000538.4

p.C185*

c.555C>A

2 papers

NM_000538.4

p.Q181H

c.543G>C

2 papers

NM_000538.4

p.Q181H

c.543G>T

1 paper

NM_000538.4

p.D180N

c.538G>A

1 paper

NM_000538.4

p.K175fs

c.523_524fs

1 paper

NM_000538.4

p.K175fs

c.523_524fs