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

9 papers

NM_001025603.2

p.P409R

c.1226C>G

Surrounding Variants

1 paper

NM_001025603.2

p.R410Q

c.1229G>A

1 paper

NM_001025603.2

p.E413_N414delFs

c.1239_1240delTC

1 paper

NM_001025603.2

p.N414fs

c.1240_1241fs

1 paper

NM_001025603.2

p.G395G

c.1185A>G

3 papers

NM_001025603.2

p.L385delFs

c.1154delA

1 paper

NM_001025603.2

p.V378fs

c.1132_1133fs

1 paper

NM_001025603.2

p.A376V

c.1127C>T

1 paper

NM_001025603.2

p.Q444*

c.1330C>T

1 paper

NM_001025603.2

p.P374P

c.1122C>T

2 papers

NM_001025603.2

p.L367_S368del2

c.1099_1103del6

1 paper

NM_001025603.2

p.A450T

c.1348G>A

1 paper

NM_001025603.2

p.Q453*

c.1357C>T