Varaico: Literature-Extracted Genetic Variants

Gene:RIPK1
Variant:p.Q319_S320delFs

RIPK1

537 papers

RefSeq Summary

This gene encodes a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases. The encoded protein plays a role in inflammation and cell death in response to tissue d...

Pfam Domains

PK_Tyr_Ser-Thraa 18–285UCSCProtein tyrosine and serine/threonine kinase
Deathaa 584–669UCSCDeath domain

Gene Aliases

HGNC Name

receptor interacting serine/threonine kinase 1

HGNC Alias Symbols

RIP; RIP1; RIP-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001354930.2
p.Q319_S320delFs
c.956_960del5
Surrounding Variants
4 papers
NM_001354930.2
p.M318delFs
c.954delG
3 papers
NM_001354930.2
p.M318fs
c.952_953fs
2 papers
NM_001354930.2
p.M318fs
c.952_953fs
1 paper
NM_001354930.2
p.S320C
c.959C>G
2 papers
NM_001354930.2
p.L321R
c.962T>G
1 paper
NM_001354930.2
p.K316R
c.947A>G
7 papers
NM_001354930.2
p.D324N
c.970G>A
10 papers
NM_001354930.2
p.D324H
c.970G>C
6 papers
NM_001354930.2
p.D324Y
c.970G>T
4 papers
NM_001354930.2
p.D324A
c.971A>C
2 papers
NM_001354930.2
p.D324G
c.971A>G
4 papers
NM_001354930.2
p.D324V
c.971A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."