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.G283fs

c.847_848fs

Surrounding Variants

2 papers

NM_015311.3

p.G283delFs

c.848delC

5 papers

NM_015311.3

p.R284H

c.851G>A

3 papers

NM_015311.3

p.W279*

c.837G>A

3 papers

NM_015311.3

p.W279*

c.836G>A

1 paper

NM_015311.3

p.L287V

c.859C>G

1 paper

NM_015311.3

p.R290H

c.869G>A

1 paper

NM_015311.3

p.L293F

c.877C>T

1 paper

NM_015311.3

p.Y268_V269Fs

c.803_807delinsTFs

1 paper

NM_015311.3

p.D299V

c.896A>T

3 papers

NM_015311.3

p.L307L

c.921T>C

3 papers

NM_015311.3

p.Q310*

c.928C>T

1 paper

NM_015311.3

p.P252P

c.756T>A