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.R524fs

c.1570_1571fs

Surrounding Variants

1 paper

NM_001144952.2

p.R524delFs

c.1570delG

1 paper

NM_001144952.2

p.T511S

c.1532C>G

1 paper

NM_001144952.2

p.T511S

c.1531A>T

1 paper

NM_001144952.2

p.V507F

c.1519G>T

1 paper

NM_001144952.2

p.T499N

c.1496C>A

1 paper

NM_001144952.2

p.V492I

c.1474G>A

1 paper

NM_001144952.2

p.V483F

c.1447G>T

1 paper

NM_001144952.2

p.T472I

c.1415C>T

1 paper

NM_001144952.2

p.A470A

c.1410G>A

1 paper

NM_001144952.2

p.A470G

c.1409C>G

2 papers

NM_001144952.2

p.S463C

c.1387A>T

1 paper

NM_001144952.2

p.A428E

c.1283C>A