Varaico: Literature-Extracted Genetic Variants

Gene:SLITRK1
Variant:p.E455*

SLITRK1

111 papers

RefSeq Summary

This gene encodes a member of the SLITRK protein family. Members of this family are integral membrane proteins that are characterized by two N-terminal leucine-rich repeat (LRR) domains and a C-termin...

Pfam Domains

LRR_8aa 83–142UCSCLeucine rich repeat
LRR_8aa 138–189UCSCLeucine rich repeat

Gene Aliases

HGNC Name

SLIT and NTRK like family member 1

HGNC Previous Symbol

LRRC12

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001281503.2
p.E455*
c.1363G>T
Surrounding Variants
1 paper
NM_001281503.2
p.I462V
c.1384A>G
1 paper
NM_001281503.2
p.A444S
c.1330G>T
2 papers
NM_001281503.2
p.A444T
c.1330G>A
2 papers
NM_001281503.2
p.D431Y
c.1291G>T
1 paper
NM_001281503.2
p.Y429H
c.1285T>C
1 paper
NM_001281503.2
p.N481S
c.1442A>G
1 paper
NM_001281503.2
p.L482L
c.1444C>T
1 paper
NM_001281503.2
p.W427C
c.1281G>T
1 paper
NM_001281503.2
p.W427C
c.1281G>C
1 paper
NM_001281503.2
p.R484M
c.1451G>T
1 paper
NM_001281503.2
p.R484K
c.1451G>A
2 papers
NM_001281503.2
p.L422fs
c.1264_1265fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."