Varaico: Literature-Extracted Genetic Variants

Gene:KTN1
Variant:p.Q335fs

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.Q335fs
c.1003_1004fs
Surrounding Variants
1 paper
NM_001079521.2
p.Q335Fs
c.1003delinsGAFs
1 paper
NM_001079521.2
p.L330F
c.988C>T
1 paper
NM_001079521.2
p.T329T
c.987G>A
1 paper
NM_001079521.2
p.E346D
c.1038A>C
1 paper
NM_001079521.2
p.E346D
c.1038A>T
1 paper
NM_001079521.2
p.D347G
c.1040A>G
1 paper
NM_001079521.2
p.T364R
c.1091C>G
1 paper
NM_001079521.2
p.T437A
c.1309A>G
1 paper
NM_001079521.2
p.N438D
c.1312A>G
2 papers
NM_001079521.2
p.R452C
c.1354C>T
1 paper
NM_001079521.2
p.A456S
c.1366G>T
1 paper
NM_001079521.2
p.N460K
c.1380T>A
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