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.E674G

c.2021A>G

Surrounding Variants

1 paper

NM_001009566.3

p.R665L

c.1994G>T

1 paper

NM_001009566.3

p.S686I

c.2057G>T

1 paper

NM_001009566.3

p.S686S

c.2058C>T

1 paper

NM_001009566.3

p.T689M

c.2066C>T

1 paper

NM_001009566.3

p.V638I

c.1912G>A

1 paper

NM_001009566.3

p.C629G

c.1885T>G

1 paper

NM_001009566.3

p.L621F

c.1861C>T

1 paper

NM_001009566.3

p.T615M

c.1844C>T

1 paper

NM_001009566.3

p.R611Q

c.1832G>A

2 papers

NM_001009566.3

p.R611W

c.1831C>T

1 paper

NM_001009566.3

p.D572H

c.1714G>C

1 paper

NM_001009566.3

p.G564V

c.1691G>T