Varaico: Literature-Extracted Genetic Variants

Gene:KTN1
Variant:p.E995K

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.E995K
c.2983G>A
Surrounding Variants
1 paper
NM_001079521.2
p.P992insFs
c.2974_2975insC
1 paper
NM_001079521.2
p.S1009N
c.3026G>A
1 paper
NM_001079521.2
p.G1010A
c.3029G>C
1 paper
NM_001079521.2
p.E1034D
c.3102G>C
1 paper
NM_001079521.2
p.E1034D
c.3102G>T
1 paper
NM_001079521.2
p.E884G
c.2651A>G
1 paper
NM_001079521.2
p.L883F
c.2649G>C
1 paper
NM_001079521.2
p.L883F
c.2649G>T
2 papers
NM_001079521.2
p.R1061G
c.3181A>G
1 paper
NM_001079521.2
p.Q1063E
c.3187C>G
1 paper
NM_001079521.2
p.P1081P
c.3243A>G
3 papers
NM_001079521.2
p.Q866R
c.2597A>G
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