Varaico: Literature-Extracted Genetic Variants

Gene:NPTN
Variant:p.P25Q

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
Selected Variant
1 paper
NM_012428.4
p.P25Q
c.74C>A
Surrounding Variants
1 paper
NM_012428.4
p.S4S
c.12G>C
1 paper
NM_012428.4
p.S2L
c.5C>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."