Varaico: Literature-Extracted Genetic Variants

Gene:SLITRK1
Variant:p.R646Q

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.R646Q
c.1937G>A
Surrounding Variants
1 paper
NM_001281503.2
p.R652*
c.1954C>T
1 paper
NM_001281503.2
p.R652P
c.1955G>C
1 paper
NM_001281503.2
p.S656F
c.1967C>T
1 paper
NM_001281503.2
p.F628F
c.1884T>C
1 paper
NM_001281503.2
p.L610I
c.1828C>A
1 paper
NM_001281503.2
p.A683V
c.2048C>T
1 paper
NM_001281503.2
p.S608P
c.1822T>C
1 paper
NM_001281503.2
p.Y687H
c.2059T>C
1 paper
NM_001281503.2
p.S691Y
c.2072C>A
1 paper
NM_001281503.2
p.A600V
c.1799C>T
1 paper
NM_001281503.2
p.H692Q
c.2076C>G
1 paper
NM_001281503.2
p.H692Q
c.2076C>A
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