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

6 papers

NM_003721.4

p.L144P

c.431T>C

Surrounding Variants

1 paper

NM_003721.4

p.L144insFs

c.430dupC

1 paper

NM_003721.4

p.W146*

c.437G>A

1 paper

NM_003721.4

p.W146*

c.438G>A

1 paper

NM_003721.4

p.W146_G147Splc

c.438+1G>T

1 paper

NM_003721.4

p.R141C

c.421C>T

5 papers

NM_003721.4

p.W146_G147Splc

c.438+5G>A

1 paper

NM_003721.4

p.V140fs

c.418_419fs

1 paper

NM_003721.4

p.I137T

c.410T>C

1 paper

NM_003721.4

p.E136_I137delFs

c.406_409del4

1 paper

NM_003721.4

p.A133S

c.397G>T

1 paper

NM_003721.4

p.S132T

c.394T>A

1 paper

NM_003721.4

p.S132delFs

c.394delT