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.G133V

c.398G>T

Surrounding Variants

2 papers

NM_000538.4

p.M137T

c.410T>C

1 paper

NM_000538.4

p.G120V

c.359G>T

1 paper

NM_000538.4

p.H117delFs

c.350delA

1 paper

NM_000538.4

p.E115D

c.345G>C

1 paper

NM_000538.4

p.E115D

c.345G>T

3 papers

NM_000538.4

p.A154insFs

c.460_461insC

1 paper

NM_000538.4

p.E112*

c.334G>T

1 paper

NM_000538.4

p.Q156delFs

c.467delA

1 paper

NM_000538.4

p.K158fs

c.472_473fs

1 paper

NM_000538.4

p.K158_P159delFs

c.474_475delAC

3 papers

NM_000538.4

p.L108*

c.323T>A

1 paper

NM_000538.4

p.A105T

c.313G>A