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.L251L

c.753C>T

Surrounding Variants

1 paper

NM_001025603.2

p.G250E

c.749G>A

1 paper

NM_001025603.2

p.E253Splc

c.757+1G>A

1 paper

NM_001025603.2

p.A243_H244del2

c.727_731del6

1 paper

NM_001025603.2

p.R239P

c.716G>C

7 papers

NM_001025603.2

p.R239*

c.715C>T

1 paper

NM_001025603.2

p.A227T

c.679G>A

3 papers

NM_001025603.2

p.A206P

c.616G>C

1 paper

NM_001025603.2

p.A204V

c.611C>T

1 paper

NM_001025603.2

p.V201G

c.602T>G

1 paper

NM_001025603.2

p.D198E

c.594T>G

1 paper

NM_001025603.2

p.D198E

c.594T>A

6 papers

NM_001025603.2

p.R197Q

c.590G>A