Varaico: Literature-Extracted Genetic Variants

Gene:KTN1

KTN1

123 papers

RefSeq Summary

This gene encodes an integral membrane protein that is a member of the kinectin protein family. The encoded protein is primarily localized to the endoplasmic reticulum membrane. This protein binds kin...

Pfam Domains

Rib_recp_KP_regaa 29–172UCSCRibosome receptor lysine/proline rich region

Gene Aliases

HGNC Name

kinectin 1

HGNC Alias Symbols

KIAA0004; CG1; KNT

Papers
RefSeq ID
Protein change
DNA change
1–12 of 117 variants
4 papers
NM_001079521.2
p.K708I
c.2123A>T
3 papers
NM_001079521.2
p.Q866R
c.2597A>G
2 papers
NM_001079521.2
p.Q45H
c.135A>T
2 papers
NM_001079521.2
p.A135T
c.403G>A
2 papers
NM_001079521.2
p.P152A
c.454C>G
2 papers
NM_001079521.2
p.G267V
c.800G>T
2 papers
NM_001079521.2
p.R452C
c.1354C>T
2 papers
NM_001079521.2
p.K708delins
c.2123_2124delinsTC
2 papers
NM_001079521.2
p.R1061G
c.3181A>G
1 paper
NM_001079521.2
p.M1T
c.2T>C
1 paper
NM_001079521.2
p.M1_E2insFs
c.3_4insA
1 paper
NM_001079521.2
p.A7E
c.20C>A
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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."