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

2 papers

NM_015311.3

p.W172*

c.515G>A

Surrounding Variants

1 paper

NM_015311.3

p.S174I

c.521G>T

1 paper

NM_015311.3

p.E185K

c.553G>A

1 paper

NM_015311.3

p.P188S

c.562C>T

4 papers

NM_015311.3

p.L154fs

c.460_461fs

3 papers

NM_015311.3

p.A190G

c.569C>G

6 papers

NM_015311.3

p.L154fs

c.460_461fs

11 papers

NM_015311.3

p.G153insFs

c.458dupG

1 paper

NM_015311.3

p.G153fs

c.457_458fs

6 papers

NM_015311.3

p.G153Fs

c.457_458delinsTFs

1 paper

NM_015311.3

p.G153fs

c.457_458fs

1 paper

NM_015311.3

p.R150R

c.450G>C

3 papers

NM_015311.3

p.L194L

c.580C>T