Varaico: Literature-Extracted Genetic Variants

Gene:CLDN2
Variant:p.S207C

CLDN2

58 papers

RefSeq Summary

This gene product belongs to the claudin protein family whose members have been identified as major integral membrane proteins localized exclusively at tight junctions. Claudins are expressed in an or...

Pfam Domains

PMP22_Claudinaa 4–181UCSCPMP-22/EMP/MP20/Claudin family

Gene Aliases

HGNC Name

claudin 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020384.4
p.S207C
c.619A>T
Surrounding Variants
1 paper
NM_020384.4
p.S207T
c.620G>C
1 paper
NM_020384.4
p.P214T
c.640C>A
1 paper
NM_020384.4
p.P214fs
c.640_641fs
1 paper
NM_020384.4
p.A200S
c.598G>T
1 paper
NM_020384.4
p.P215insFs
c.643dupC
1 paper
NM_020384.4
p.Q199*
c.595C>T
1 paper
NM_020384.4
p.K216Q
c.646A>C
1 paper
NM_020384.4
p.K218R
c.653A>G
1 paper
NM_020384.4
p.N190_N193del4
c.568_578del12
1 paper
NM_020384.4
p.Y165N
c.493T>A
5 papers
NM_020384.4
p.G161R
c.481G>A
5 papers
NM_020384.4
p.G161R
c.481G>C
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