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.S571N

c.1712G>A

Surrounding Variants

1 paper

NM_001025603.2

p.S563L

c.1688C>T

1 paper

NM_001025603.2

p.A581delFs

c.1741delC

1 paper

NM_001025603.2

p.A581fs

c.1741_1742fs

1 paper

NM_001025603.2

p.E584K

c.1750G>A

1 paper

NM_001025603.2

p.G547S

c.1639G>A

1 paper

NM_001025603.2

p.L604L

c.1810T>C

1 paper

NM_001025603.2

p.Q606*

c.1816C>T

1 paper

NM_001025603.2

p.H608Y

c.1822C>T

1 paper

NM_001025603.2

p.G533V

c.1598G>T

1 paper

NM_001025603.2

p.P518L

c.1553C>T

1 paper

NM_001025603.2

p.W500L

c.1499G>T

2 papers

NM_001025603.2

p.P499S

c.1495C>T