Varaico: Literature-Extracted Genetic Variants

Gene:SLITRK5
Variant:p.L143H

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.L143H
c.428T>A
Surrounding Variants
1 paper
NM_001384609.1
p.E142*
c.424G>T
1 paper
NM_001384609.1
p.T148T
c.444C>G
1 paper
NM_001384609.1
p.R129Q
c.386G>A
1 paper
NM_001384609.1
p.L158fs
c.472_473fs
1 paper
NM_001384609.1
p.I120S
c.359T>G
2 papers
NM_001384609.1
p.Q118H
c.354G>C
2 papers
NM_001384609.1
p.Q118H
c.354G>T
1 paper
NM_001384609.1
p.N99K
c.297T>A
1 paper
NM_001384609.1
p.N99K
c.297T>G
1 paper
NM_001384609.1
p.R95P
c.284G>C
1 paper
NM_001384609.1
p.L196H
c.587T>A
1 paper
NM_001384609.1
p.L88F
c.264G>C
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