Varaico: Literature-Extracted Genetic Variants

RNASEL

379 papers

RefSeq Summary

This gene encodes a component of the interferon-regulated 2-5A system that functions in the antiviral and antiproliferative roles of interferons. The protein is involved in innate immunity and is acti...

Pfam Domains

Ankaa 58–90UCSCAnkyrin repeat

Ankaa 91–123UCSCAnkyrin repeat

Ankaa 124–156UCSCAnkyrin repeat

Ankaa 167–200UCSCAnkyrin repeat

Ankaa 238–271UCSCAnkyrin repeat

Pkinaseaa 375–522UCSCProtein kinase domain

Gene Aliases

HGNC Name

ribonuclease L

HGNC Previous Symbols

RNS4; PRCA1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_021133.4

p.K274N

c.822A>T

Surrounding Variants

2 papers

NM_021133.4

p.K274N

c.822A>C

2 papers

NM_021133.4

p.A276V

c.827C>T

1 paper

NM_021133.4

p.E282Q

c.844G>C

1 paper

NM_021133.4

p.E265D

c.795G>T

84 papers

NM_021133.4

p.E265*

c.793G>T

1 paper

NM_021133.4

p.K284N

c.852A>T

1 paper

NM_021133.4

p.K284N

c.852A>C

1 paper

NM_021133.4

p.L285M

c.853C>A

1 paper

NM_021133.4

p.I264V

c.790A>G

5 papers

NM_021133.4

p.E262*

c.784G>T

1 paper

NM_021133.4

p.K287N

c.861A>C

2 papers

NM_021133.4

p.A289T

c.865G>A