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

11 papers

NM_015311.3

p.G153insFs

c.458dupG

Surrounding Variants

1 paper

NM_015311.3

p.G153fs

c.457_458fs

6 papers

NM_015311.3

p.G153Fs

c.457_458delinsTFs

6 papers

NM_015311.3

p.L154fs

c.460_461fs

1 paper

NM_015311.3

p.G153fs

c.457_458fs

4 papers

NM_015311.3

p.L154fs

c.460_461fs

1 paper

NM_015311.3

p.R150R

c.450G>C

1 paper

NM_015311.3

p.A143fs

c.427_428fs

2 papers

NM_015311.3

p.A143insFs

c.427dupG

1 paper

NM_015311.3

p.G142_A143delFs

c.424_427del4

1 paper

NM_015311.3

p.A143T

c.427G>A

1 paper

NM_015311.3

p.A143fs

c.427_428fs

2 papers

NM_015311.3

p.W172*

c.515G>A