Varaico: Literature-Extracted Genetic Variants

RFX5

137 papers

RefSeq Summary

A lack of MHC-II expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or the bare lymphocyte syndrome (BLS; MIM 209920). At least 4 complementation groups have been ident...

Pfam Domains

RFX5_Naa 28–86UCSCRFX5 N-terminal domain

RFX_DNA_bindingaa 89–168UCSCRFX DNA-binding domain

RFX5_DNA_bdgaa 396–614UCSCRFX5 DNA-binding domain

Gene Aliases

HGNC Name

regulatory factor X5

HGNC Previous Name

regulatory factor X, 5 (influences HLA class II expression)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001025603.2

p.M1T

c.2T>C

Surrounding Variants

2 papers

NM_001025603.2

p.M1I

c.3G>A

1 paper

NM_001025603.2

p.K12delFs

c.35delT

1 paper

NM_001025603.2

p.G14R

c.40G>C

1 paper

NM_001025603.2

p.G14R

c.40G>A

2 papers

NM_001025603.2

p.A17P

c.49G>C

1 paper

NM_001025603.2

p.A17fs

c.49_50fs

1 paper

NM_001025603.2

p.P19fs

c.55_56fs

2 papers

NM_001025603.2

p.P19_G20insFs

c.57_58insC

4 papers

NM_001025603.2

p.P19fs

c.55_56fs

4 papers

NM_001025603.2

p.P19delFs

c.56delG

1 paper

NM_001025603.2

p.A22T

c.64G>A

1 paper

NM_001025603.2

p.A24delFs

c.72delA