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

1–12 of 78 variants

4 papers

NM_001009566.3

p.F70Y

c.209T>A

3 papers

NM_001009566.3

p.A332T

c.994G>A

2 papers

NM_001009566.3

p.G176E

c.527G>A

2 papers

NM_001009566.3

p.L345F

c.1033C>T

2 papers

NM_001009566.3

p.R611W

c.1831C>T

2 papers

NM_001009566.3

p.T895T

c.2685C>A

2 papers

NM_001009566.3

p.S924_E925del0

c.2770_2775del6

1 paper

NM_001009566.3

p.M1insFs

c.2dupT

1 paper

NM_001009566.3

p.E48D

c.144G>T

1 paper

NM_001009566.3

p.E48D

c.144G>C

1 paper

NM_001009566.3

p.T52I

c.155C>T

1 paper

NM_001009566.3

p.V101G

c.302T>G