Varaico: Literature-Extracted Genetic Variants

Gene:CANX
Variant:p.P334S

CANX

662 papers

RefSeq Summary

This gene encodes a member of the calnexin family of molecular chaperones. The encoded protein is a calcium-binding, endoplasmic reticulum (ER)-associated protein that interacts transiently with newly...

Pfam Domains

Calreticulinaa 71–440UCSCCalreticulin family
Calreticulinaa 271–474UCSCCalreticulin family

Gene Aliases

HGNC Name

calnexin

HGNC Alias Symbols

CNX; IP90; P90

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001746.4
p.P334S
c.1000C>T
Surrounding Variants
1 paper
NM_001746.4
p.D333E
c.999T>A
1 paper
NM_001746.4
p.D333E
c.999T>G
1 paper
NM_001746.4
p.D335V
c.1004A>T
1 paper
NM_001746.4
p.V331I
c.991G>A
1 paper
NM_001746.4
p.E329A
c.986A>C
1 paper
NM_001746.4
p.P339H
c.1016C>A
1 paper
NM_001746.4
p.D326_E327delFs
c.978_979delTG
1 paper
NM_001746.4
p.W323L
c.968G>T
1 paper
NM_001746.4
p.P320L
c.959C>T
1 paper
NM_001746.4
p.E316delFs
c.947delA
1 paper
NM_001746.4
p.P313A
c.937C>G
1 paper
NM_001746.4
p.P313S
c.937C>T
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