Varaico: Literature-Extracted Genetic Variants

Gene:KTN1
Variant:p.D1232N

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.D1232N
c.3694G>A
Surrounding Variants
1 paper
NM_001079521.2
p.N1252S
c.3755A>G
1 paper
NM_001079521.2
p.V1227I
c.3679G>A
1 paper
NM_001079521.2
p.E1212K
c.3634G>A
1 paper
NM_001079521.2
p.D1198N
c.3592G>A
1 paper
NM_001079521.2
p.D1169N
c.3505G>A
1 paper
NM_001079521.2
p.E1145K
c.3433G>A
1 paper
NM_001079521.2
p.Q1133E
c.3397C>G
1 paper
NM_001079521.2
p.A1286D
c.3857C>A
1 paper
NM_001079521.2
p.V1298I
c.3892G>A
1 paper
NM_001079521.2
p.P1081P
c.3243A>G
1 paper
NM_001079521.2
p.Q1063E
c.3187C>G
2 papers
NM_001079521.2
p.R1061G
c.3181A>G
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