Varaico: Literature-Extracted Genetic Variants

RFXANK

108 papers

RefSeq Summary

Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regu...

Pfam Domains

Ankaa 123–155UCSCAnkyrin repeat

Ank_2aa 138–225UCSCAnkyrin repeats (3 copies)

Ankaa 156–188UCSCAnkyrin repeat

Ankaa 189–221UCSCAnkyrin repeat

Gene Aliases

HGNC Name

regulatory factor X associated ankyrin containing protein

HGNC Alias Symbols

BLS; RFX-B; ANKRA1; F14150_1; MGC138628

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003721.4

p.A84P

c.250G>C

Surrounding Variants

4 papers

NM_003721.4

p.S83_A84delFs

c.247_250del4

1 paper

NM_003721.4

p.P86L

c.257C>T

1 paper

NM_003721.4

p.A87delFs

c.260delC

6 papers

NM_003721.4

p.R78*

c.232C>T

7 papers

NM_003721.4

p.S91Splc

c.271+1G>C

NM_134440.3

p.C90Splc

c.268+1G>C

3 papers

NM_003721.4

p.S91Splc

c.271+5G>A

1 paper

NM_003721.4

p.T72I

c.215C>T

1 paper

NM_003721.4

p.H69L

c.206A>T

1 paper

NM_003721.4

p.A63Splc

c.188-1G>A

1 paper

NM_003721.4

p.A63Splc

c.188-11C>T

1 paper

NM_003721.4

p.S91Splc

c.272-1G>A

1 paper

NM_003721.4

p.S93P

c.277T>C