Varaico: Literature-Extracted Genetic Variants

Gene:SLITRK1
Variant:p.K45delFs

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.K45delFs
c.134delT
Surrounding Variants
1 paper
NM_001281503.2
p.K45fs
c.133_134fs
1 paper
NM_001281503.2
p.F47L
c.139T>C
1 paper
NM_001281503.2
p.F47L
c.141C>G
1 paper
NM_001281503.2
p.F47L
c.141C>A
1 paper
NM_001281503.2
p.S49N
c.146G>A
1 paper
NM_001281503.2
p.R52H
c.155G>A
1 paper
NM_001281503.2
p.I34L
c.100A>T
1 paper
NM_001281503.2
p.I34L
c.100A>C
1 paper
NM_001281503.2
p.L63*
c.188T>G
1 paper
NM_001281503.2
p.L65L
c.195G>T
1 paper
NM_001281503.2
p.L65L
c.195G>A
1 paper
NM_001281503.2
p.K25*
c.73A>T
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