Varaico: Literature-Extracted Genetic Variants

Gene:SLITRK5
Variant:p.L196H

SLITRK5

92 papers

RefSeq Summary

Members of the SLITRK family, such as SLITRK5, are integral membrane proteins with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLIT proteins (see SLIT1; MIM 603742). Most SLITRK...

Pfam Domains

LRR_8aa 129–189UCSCLeucine rich repeat
LRR_8aa 412–469UCSCLeucine rich repeat
LRR_8aa 457–517UCSCLeucine rich repeat

Gene Aliases

HGNC Name

SLIT and NTRK like family member 5

HGNC Previous Symbol

LRRC11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001384609.1
p.L196H
c.587T>A
Surrounding Variants
1 paper
NM_001384609.1
p.R208Q
c.623G>A
1 paper
NM_001384609.1
p.R211W
c.631C>T
1 paper
NM_001384609.1
p.K213N
c.639A>C
1 paper
NM_001384609.1
p.K213N
c.639A>T
1 paper
NM_001384609.1
p.L220I
c.658C>A
1 paper
NM_001384609.1
p.L158fs
c.472_473fs
1 paper
NM_001384609.1
p.P236T
c.706C>A
1 paper
NM_001384609.1
p.C239_S240delFs
c.717_718delTT
1 paper
NM_001384609.1
p.C241Y
c.722G>A
1 paper
NM_001384609.1
p.T148T
c.444C>G
1 paper
NM_001384609.1
p.L143H
c.428T>A
1 paper
NM_001384609.1
p.E142*
c.424G>T
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