Varaico: Literature-Extracted Genetic Variants

Gene:DPYSL2
Variant:p.R343C

DPYSL2

101 papers

RefSeq Summary

This gene encodes a member of the collapsin response mediator protein family. Collapsin response mediator proteins form homo- and hetero-tetramers and facilitate neuron guidance, growth and polarity. ...

Pfam Domains

Amidohydro_1aa 169–558UCSCAmidohydrolase family

Gene Aliases

HGNC Name

dihydropyrimidinase like 2

HGNC Alias Symbols

DRP-2; DHPRP2; CRMP2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001197293.3
p.R343C
c.1027C>T
Surrounding Variants
1 paper
NM_001197293.3
p.R343H
c.1028G>A
1 paper
NM_001197293.3
p.A344V
c.1031C>T
1 paper
NM_001197293.3
p.A338V
c.1013C>T
1 paper
NM_001197293.3
p.A370T
c.1108G>A
1 paper
NM_001386.6
p.A267S
c.799G>T
1 paper
NM_001197293.3
p.E326delFs
c.977delA
3 papers
NM_001197293.3
p.P325P
c.975C>G
1 paper
NM_001197293.3
p.E313E
c.939G>A
1 paper
NM_001197293.3
p.E312_E313Splc
c.936+251C>T
1 paper
NM_001197293.3
p.L290L
c.868C>T
1 paper
NM_001197293.3
p.N399D
c.1195A>G
1 paper
NM_001197293.3
p.L431F
c.1291C>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."