Varaico: Literature-Extracted Genetic Variants

Gene:KTN1
Variant:p.R452C

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
2 papers
NM_001079521.2
p.R452C
c.1354C>T
Surrounding Variants
1 paper
NM_001079521.2
p.A456S
c.1366G>T
1 paper
NM_001079521.2
p.N460K
c.1380T>A
1 paper
NM_001079521.2
p.N460K
c.1380T>G
1 paper
NM_001079521.2
p.K487_V488Splc
c.1461+97A>T
1 paper
NM_001079521.2
p.N438D
c.1312A>G
1 paper
NM_001079521.2
p.T437A
c.1309A>G
1 paper
NM_001079521.2
p.Q489*
c.1465C>T
1 paper
NM_001079521.2
p.E498*
c.1492G>T
1 paper
NM_001079521.2
p.E499*
c.1495G>T
1 paper
NM_001079521.2
p.A509V
c.1526C>T
1 paper
NM_001079521.2
p.H533Y
c.1597C>T
1 paper
NM_001079521.2
p.E579D
c.1737G>C
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