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.Q830*

c.2488C>T

Surrounding Variants

1 paper

NM_001009566.3

p.E809_V810Splc

c.2428-1G>A

1 paper

NM_001009566.3

p.V856I

c.2566G>A

1 paper

NM_001009566.3

p.S869R

c.2605A>C

1 paper

NM_001009566.3

p.S869R

c.2607C>G

1 paper

NM_001009566.3

p.S869R

c.2607C>A

1 paper

NM_001009566.3

p.R891W

c.2671C>T

2 papers

NM_001009566.3

p.T895T

c.2685C>A

1 paper

NM_001009566.3

p.E898del1

c.2692_2693delCTC

1 paper

NM_001009566.3

p.D904E

c.2712C>A

1 paper

NM_001009566.3

p.M915_E916del2

c.2743_2747del6

1 paper

NM_001009566.3

p.Q921L

c.2762A>T

2 papers

NM_001009566.3

p.S924_E925del0

c.2770_2775del6