Varaico: Literature-Extracted Genetic Variants

Gene:SLITRK2
Variant:p.L396F

SLITRK2

86 papers

RefSeq Summary

This gene encodes an integral membrane protein that contains two N-terminal leucine-rich repeats domains and contains C-terminal regions similar to neurotrophin receptors. The encoded protein may play...

Pfam Domains

LRR_8aa 86–146UCSCLeucine rich repeat
LRR_8aa 141–193UCSCLeucine rich repeat
LRR_8aa 399–459UCSCLeucine rich repeat

Gene Aliases

HGNC Name

SLIT and NTRK like family member 2

HGNC Previous Symbols

SLITL1; TMEM257; CXorf1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032539.5
p.L396F
c.1188A>C
Surrounding Variants
1 paper
NM_032539.5
p.L396F
c.1188A>T
1 paper
NM_032539.5
p.S399G
c.1195A>G
1 paper
NM_032539.5
p.K392E
c.1174A>G
1 paper
NM_032539.5
p.P374Q
c.1121C>A
2 papers
NM_032539.5
p.P374R
c.1121C>G
1 paper
NM_032539.5
p.P374S
c.1120C>T
1 paper
NM_032539.5
p.T420A
c.1258A>G
1 paper
NM_032539.5
p.L370M
c.1108C>A
3 papers
NM_032539.5
p.R426C
c.1276C>T
2 papers
NM_032539.5
p.R426H
c.1277G>A
1 paper
NM_032539.5
p.Q349P
c.1046A>C
1 paper
NM_032539.5
p.Q349*
c.1045C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."