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

1–12 of 124 variants

9 papers

NM_001025603.2

p.P409R

c.1226C>G

8 papers

NM_001025603.2

p.R149Q

c.446G>A

7 papers

NM_001025603.2

p.R239*

c.715C>T

6 papers

NM_001025603.2

p.R197Q

c.590G>A

4 papers

NM_001025603.2

p.P19fs

c.55_56fs

4 papers

NM_001025603.2

p.P19delFs

c.56delG

3 papers

NM_001025603.2

p.S39Splc

c.116+1G>A

3 papers

NM_001025603.2

p.A206P

c.616G>C

3 papers

NM_001025603.2

p.L385delFs

c.1154delA

2 papers

NM_001025603.2

p.M1I

c.3G>A

2 papers

NM_001025603.2

p.A17P

c.49G>C

2 papers

NM_001025603.2

p.P19_G20insFs

c.57_58insC