Varaico: Literature-Extracted Genetic Variants

OBSL1

283 papers

RefSeq Summary

Cytoskeletal adaptor proteins function in linking the internal cytoskeleton of cells to the cell membrane. This gene encodes a cytoskeletal adaptor protein, which is a member of the Unc-89/obscurin fa...

Pfam Domains

I-setaa 12–101UCSCImmunoglobulin I-set domain

I-setaa 128–226UCSCImmunoglobulin I-set domain

I-setaa 248–336UCSCImmunoglobulin I-set domain

I-setaa 341–426UCSCImmunoglobulin I-set domain

I-setaa 720–795UCSCImmunoglobulin I-set domain

Ig_3aa 804–882UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

obscurin like cytoskeletal adaptor 1

HGNC Alias Symbol

KIAA0657

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015311.3

p.C512Splc

c.1534+5G>T

Surrounding Variants

2 papers

NM_015311.3

p.C512Splc

c.1534+5G>C

3 papers

NM_015311.3

p.C512Splc

c.1534+2T>C

1 paper

NM_015311.3

p.V510L

c.1528G>T

1 paper

NM_015311.3

p.V510L

c.1528G>C

3 papers

NM_015311.3

p.R503H

c.1508G>A

1 paper

NM_015311.3

p.R503C

c.1507C>T

1 paper

NM_015311.3

p.E494E

c.1482G>A

1 paper

NM_015311.3

p.E490K

c.1468G>A

1 paper

NM_015311.3

p.R489Q

c.1466G>A

5 papers

NM_015311.3

p.R489*

c.1465C>T

8 papers

NM_015311.3

p.T488I

c.1463C>T

1 paper

NM_015311.3

p.M479R

c.1436T>G