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.L40F

c.118C>T

Surrounding Variants

1 paper

NM_003721.4

p.V38delFs

c.114delG

1 paper

NM_003721.4

p.V38M

c.112G>A

1 paper

NM_003721.4

p.D36H

c.106G>C

1 paper

NM_003721.4

p.P47R

c.140C>G

1 paper

NM_003721.4

p.A32V

c.95C>T

1 paper

NM_003721.4

p.P52H

c.155C>A

1 paper

NM_003721.4

p.P54fs

c.160_161fs

4 papers

NM_003721.4

p.P54delFs

c.162delG

1 paper

NM_003721.4

p.S19A

c.55T>G

1 paper

NM_003721.4

p.A63T

c.187G>A

1 paper

NM_003721.4

p.A63Splc

c.187+1G>A

1 paper

NM_003721.4

p.P6_A7ins4

c.16_20ins12