Varaico: Literature-Extracted Genetic Variants

Gene:NECTIN2
Variant:p.E503K

NECTIN2

99 papers

RefSeq Summary

This gene encodes a single-pass type I membrane glycoprotein with two Ig-like C2-type domains and an Ig-like V-type domain. This protein is one of the plasma membrane components of adherens junctions....

Pfam Domains

V-setaa 37–159UCSCImmunoglobulin V-set domain
C2-set_2aa 159–249UCSCCD80-like C2-set immunoglobulin domain

Gene Aliases

HGNC Name

nectin cell adhesion molecule 2

HGNC Previous Symbols

HVEB; PVRL2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001042724.2
p.E503K
c.1507G>A
Surrounding Variants
1 paper
NM_001042724.2
p.D523G
c.1568A>G
1 paper
NM_001042724.2
p.P479S
c.1435C>T
1 paper
NM_001042724.2
p.E462*
c.1384G>T
1 paper
NM_001042724.2
p.P438del1
c.1312_1314delCCC
1 paper
NM_001042724.2
p.L427delFs
c.1281delG
1 paper
NM_001042724.2
p.L427fs
c.1279_1280fs
1 paper
NM_001042724.2
p.L424R
c.1271T>G
1 paper
NM_001042724.2
p.M420_P421Splc
c.1260+1G>T
1 paper
NM_001042724.2
p.E416G
c.1247A>G
1 paper
NM_001042724.2
p.L415L
c.1245G>A
1 paper
NM_001042724.2
p.A413A
c.1239G>A
2 papers
NM_001042724.2
p.P404L
c.1211C>T
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