Varaico: Literature-Extracted Genetic Variants

CLSTN1

67 papers

RefSeq Summary

This gene is a member of the calsyntenin family, a subset of the cadherin superfamily. The encoded transmembrane protein, also known as alcadein-alpha, is thought to bind to kinesin-1 motors to mediat...

Pfam Domains

Ig_CLSTNaa 9–156UCSCCalsyntenin, immunoglobulin-like domain

Ig_CLSTNaa 158–259UCSCCalsyntenin, immunoglobulin-like domain

Laminin_G_3aa 365–511UCSCConcanavalin A-like lectin/glucanases superfamily

CLSTN_Caa 566–919UCSCCalsyntenin C-terminal

Gene Aliases

HGNC Name

calsyntenin 1

HGNC Alias Symbols

CSTN1; KIAA0911; CDHR12

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001009566.3

p.I128M

c.384C>G

Surrounding Variants

1 paper

NM_001009566.3

p.G139R

c.415G>C

1 paper

NM_001009566.3

p.N141S

c.422A>G

1 paper

NM_001009566.3

p.V109I

c.325G>A

1 paper

NM_001009566.3

p.V101G

c.302T>G

2 papers

NM_001009566.3

p.G176E

c.527G>A

1 paper

NM_001009566.3

p.P210R

c.629C>G

1 paper

NM_001009566.3

p.D216E

c.648T>G

1 paper

NM_001009566.3

p.D216E

c.648T>A

1 paper

NM_001009566.3

p.I219V

c.655A>G

1 paper

NM_001009566.3

p.N221T

c.662A>C

1 paper

NM_001009566.3

p.K234E

c.700A>G

1 paper

NM_001009566.3

p.E273K

c.817G>A