Varaico: Literature-Extracted Genetic Variants

Gene:KTN1
Variant:p.D680_K681delFs

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.D680_K681delFs
c.2039_2043del5
Surrounding Variants
1 paper
NM_001079521.2
p.D680fs
c.2038_2039fs
1 paper
NM_001079521.2
p.D679H
c.2035G>C
1 paper
NM_001079521.2
p.E698K
c.2092G>A
1 paper
NM_001079521.2
p.F700insFs
c.2098_2099insT
1 paper
NM_001079521.2
p.E667Q
c.1999G>C
1 paper
NM_001079521.2
p.K708T
c.2123A>C
4 papers
NM_001079521.2
p.K708I
c.2123A>T
2 papers
NM_001079521.2
p.K708delins
c.2123_2124delinsTC
1 paper
NM_001079521.2
p.K708N
c.2124A>C
1 paper
NM_001079521.2
p.E713K
c.2137G>A
1 paper
NM_001079521.2
p.Q661*
c.1981C>T
1 paper
NM_001079521.2
p.L654S
c.1961T>C
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."