Varaico: Literature-Extracted Genetic Variants

SDK2

156 papers

RefSeq Summary

The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains two immunoglobulin domains and thirteen fibronectin type III domains. Fibronectin type III domains ...

Pfam Domains

Ig_3aa 25–95UCSCImmunoglobulin domain

I-setaa 114–203UCSCImmunoglobulin I-set domain

Ig_3aa 214–287UCSCImmunoglobulin domain

I-setaa 308–397UCSCImmunoglobulin I-set domain

I-setaa 402–492UCSCImmunoglobulin I-set domain

I-setaa 496–586UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

sidekick cell adhesion molecule 2

HGNC Alias Symbols

FLJ10832; KIAA1514

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001144952.2

p.N804D

c.2410A>G

Surrounding Variants

1 paper

NM_001144952.2

p.N804K

c.2412T>G

1 paper

NM_001144952.2

p.N804K

c.2412T>A

1 paper

NM_001144952.2

p.A800T

c.2398G>A

1 paper

NM_001144952.2

p.R809H

c.2426G>A

1 paper

NM_001144952.2

p.W812R

c.2434T>C

1 paper

NM_001144952.2

p.W812R

c.2434T>A

2 papers

NM_001144952.2

p.S816R

c.2446A>C

2 papers

NM_001144952.2

p.S816R

c.2448C>G

2 papers

NM_001144952.2

p.S816R

c.2448C>A

1 paper

NM_001144952.2

p.G822D

c.2465G>A

1 paper

NM_001144952.2

p.K828_L829Splc

c.2484+6T>C

1 paper

NM_001144952.2

p.D746N

c.2236G>A