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

1–12 of 99 variants

12 papers

NM_003721.4

p.D121V

c.362A>T

12 papers

NM_003721.4

p.R212*

c.634C>T

8 papers

NM_003721.4

p.L195P

c.584T>C

6 papers

NM_003721.4

p.R78*

c.232C>T

6 papers

NM_003721.4

p.L144P

c.431T>C

5 papers

NM_003721.4

p.S91Splc

c.271+1G>C

5 papers

NM_003721.4

p.W146_G147Splc

c.438+5G>A

5 papers

NM_003721.4

p.R157*

c.469C>T

4 papers

NM_003721.4

p.P54delFs

c.162delG

4 papers

NM_003721.4

p.S83_A84delFs

c.247_250del4

4 papers

NM_003721.4

p.G200delFs

c.600delG

3 papers

NM_003721.4

p.S91Splc

c.271+5G>A