Varaico: Literature-Extracted Genetic Variants

Gene:SLITRK1
Variant:p.L496P

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.L496P
c.1487T>C
Surrounding Variants
1 paper
NM_001281503.2
p.S495insFs
c.1484_1485insG
1 paper
NM_001281503.2
p.K498E
c.1492A>G
1 paper
NM_001281503.2
p.G493A
c.1478G>C
1 paper
NM_001281503.2
p.M507V
c.1519A>G
1 paper
NM_001281503.2
p.R484M
c.1451G>T
1 paper
NM_001281503.2
p.R484K
c.1451G>A
1 paper
NM_001281503.2
p.L482L
c.1444C>T
1 paper
NM_001281503.2
p.V511M
c.1531G>A
1 paper
NM_001281503.2
p.N481S
c.1442A>G
1 paper
NM_001281503.2
p.Q517E
c.1549C>G
1 paper
NM_001281503.2
p.I521N
c.1562T>A
1 paper
NM_001281503.2
p.Q523R
c.1568A>G
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