Varaico: Literature-Extracted Genetic Variants

Gene:NPTN

NPTN

32 papers

RefSeq Summary

This gene encodes a type I transmembrane protein belonging to the Ig superfamily. The protein is believed to be involved in cell-cell interactions or cell-substrate interactions. Alternative splicing ...

Pfam Domains

Ig_3aa 33–120UCSCImmunoglobulin domain
Ig_3aa 33–120UCSCImmunoglobulin domain
I-setaa 238–333UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

neuroplastin

HGNC Previous Symbol

SDFR1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 21 variants
1 paper
NM_012428.4
p.S2L
c.5C>T
1 paper
NM_012428.4
p.S4S
c.12G>C
1 paper
NM_012428.4
p.P25Q
c.74C>A
1 paper
NM_012428.4
p.A31V
c.92C>T
1 paper
NM_012428.4
p.T44K
c.131C>A
1 paper
NM_012428.4
p.A47T
c.139G>A
1 paper
NM_012428.4
p.A67V
c.200C>T
1 paper
NM_012428.4
p.Q77L
c.230A>T
1 paper
NM_012428.4
p.D126E
c.378C>A
1 paper
NM_012428.4
p.R137*
c.409C>T
1 paper
NM_012428.4
p.S143I
c.428G>T
1 paper
NM_012428.4
p.I150N
c.449T>A
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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."