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.R157Q

c.470G>A

Surrounding Variants

5 papers

NM_003721.4

p.R157*

c.469C>T

2 papers

NM_003721.4

p.S159R

c.475A>C

3 papers

NM_003721.4

p.S159R

c.477C>A

2 papers

NM_003721.4

p.S159R

c.477C>G

1 paper

NM_003721.4

p.A154insFs

c.460_461insC

1 paper

NM_003721.4

p.I152fs

c.454_455fs

1 paper

NM_003721.4

p.I152delFs

c.454_455delAT

1 paper

NM_003721.4

p.H151insFs

c.451_452insC

1 paper

NM_003721.4

p.G167V

c.500G>T

1 paper

NM_003721.4

p.W146_G147Splc

c.439-4G>A

1 paper

NM_003721.4

p.V173G

c.518T>G

1 paper

NM_003721.4

p.L175L

c.523C>T