Varaico: Literature-Extracted Genetic Variants

SDK1

230 papers

RefSeq Summary

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

Pfam Domains

Ig_3aa 104–173UCSCImmunoglobulin domain

I-setaa 192–278UCSCImmunoglobulin I-set domain

Ig_3aa 292–365UCSCImmunoglobulin domain

I-setaa 386–475UCSCImmunoglobulin I-set domain

I-setaa 480–570UCSCImmunoglobulin I-set domain

I-setaa 574–664UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

sidekick cell adhesion molecule 1

HGNC Alias Symbol

FLJ31425

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_152744.4

p.P995L

c.2984C>T

Surrounding Variants

1 paper

NM_152744.4

p.P995P

c.2985C>T

1 paper

NM_152744.4

p.E997fs

c.2989_2990fs

1 paper

NM_152744.4

p.W992L

c.2975G>T

3 papers

NM_152744.4

p.L988V

c.2962C>G

1 paper

NM_152744.4

p.G976E

c.2927G>A

1 paper

NM_152744.4

p.G976R

c.2926G>A

1 paper

NM_152744.4

p.G976R

c.2926G>C

1 paper

NM_152744.4

p.Y1012Y

c.3036C>T

4 papers

NM_152744.4

p.D1016N

c.3046G>A

1 paper

NM_152744.4

p.D1016_S1017insCCT

c.3046_3050ins9

1 paper

NM_152744.4

p.R1018H

c.3053G>A

2 papers

NM_152744.4

p.T1020M

c.3059C>T