Varaico: Literature-Extracted Genetic Variants

Gene:KTN1
Variant:p.R82R

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
Selected Variant
1 paper
NM_001079521.2
p.R82R
c.246A>T
Surrounding Variants
1 paper
NM_001079521.2
p.D83N
c.247G>A
1 paper
NM_001079521.2
p.S87L
c.260C>T
1 paper
NM_001079521.2
p.S77delFs
c.231delT
1 paper
NM_001079521.2
p.A89T
c.265G>A
1 paper
NM_001079521.2
p.S75S
c.225C>A
1 paper
NM_001079521.2
p.E74*
c.220G>T
1 paper
NM_001079521.2
p.A91A
c.273A>T
1 paper
NM_001079521.2
p.N69Y
c.205A>T
1 paper
NM_001079521.2
p.I67S
c.200T>G
1 paper
NM_001079521.2
p.E58K
c.172G>A
1 paper
NM_001079521.2
p.K54*
c.160A>T
1 paper
NM_001079521.2
p.T52S
c.154A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."