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.D221N

c.661G>A

Surrounding Variants

1 paper

NM_003721.4

p.Y224F

c.671A>T

12 papers

NM_003721.4

p.R212*

c.634C>T

1 paper

NM_003721.4

p.V231M

c.691G>A

1 paper

NM_003721.4

p.E207*

c.619G>T

4 papers

NM_003721.4

p.G200delFs

c.600delG

1 paper

NM_003721.4

p.R199H

c.596G>A

1 paper

NM_003721.4

p.V198A

c.593T>C

8 papers

NM_003721.4

p.L195P

c.584T>C

4 papers

NM_003721.4

p.W188*

c.564G>A

NM_001278728.2

p.W165*

c.495G>A

5 papers

NM_003721.4

p.W188*

c.563G>A

NM_001278728.2

p.W165*

c.494G>A

2 papers

NM_003721.4

p.Y186*

c.558T>A

1 paper

NM_003721.4

p.Y186*

c.558T>G