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

1–12 of 233 variants

4 papers

NM_001144952.2

p.S1451S

c.4353G>A

3 papers

NM_001144952.2

p.A214T

c.640G>A

2 papers

NM_001144952.2

p.P32A

c.94C>G

2 papers

NM_001144952.2

p.V37L

c.109G>T

2 papers

NM_001144952.2

p.V37L

c.109G>C

2 papers

NM_001144952.2

p.S463C

c.1387A>T

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

2 papers

NM_001144952.2

p.T865A

c.2593A>G

2 papers

NM_001144952.2

p.G1821E

c.5462G>A

2 papers

NM_001144952.2

p.T2045M

c.6134C>T