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

8 papers

NM_001025603.2

p.R149Q

c.446G>A

Surrounding Variants

1 paper

NM_001025603.2

p.R150M

c.449G>T

1 paper

NM_001025603.2

p.A148P

c.442G>C

1 paper

NM_001025603.2

p.I146M

c.438C>G

2 papers

NM_001025603.2

p.G152V

c.455G>T

1 paper

NM_001025603.2

p.D145H

c.433G>C

2 papers

NM_001025603.2

p.R154W

c.460C>T

1 paper

NM_001025603.2

p.R154Q

c.461G>A

2 papers

NM_001025603.2

p.L124fs

c.370_371fs

2 papers

NM_001025603.2

p.S123delFs

c.367_368delCT

1 paper

NM_001025603.2

p.K119R

c.356A>G

1 paper

NM_001025603.2

p.R118W

c.352C>T

1 paper

NM_001025603.2

p.R118G

c.352C>G