Varaico: Literature-Extracted Genetic Variants

Gene:KTN1
Variant:p.E36V

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.E36V
c.107A>T
Surrounding Variants
1 paper
NM_001079521.2
p.T32A
c.94A>G
1 paper
NM_001079521.2
p.F28Y
c.83T>A
2 papers
NM_001079521.2
p.Q45H
c.135A>T
1 paper
NM_001079521.2
p.L47L
c.141T>A
1 paper
NM_001079521.2
p.P49A
c.145C>G
1 paper
NM_001079521.2
p.F22S
c.65T>C
1 paper
NM_001079521.2
p.T52S
c.154A>T
1 paper
NM_001079521.2
p.K54*
c.160A>T
1 paper
NM_001079521.2
p.E58K
c.172G>A
1 paper
NM_001079521.2
p.V11D
c.32T>A
1 paper
NM_001079521.2
p.V11insFs
c.31_32insT
1 paper
NM_001079521.2
p.Y8S
c.23A>C
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