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

9 papers

NM_015311.3

p.L453insFs

c.1359dupA

Surrounding Variants

3 papers

NM_015311.3

p.E454fs

c.1360_1361fs

1 paper

NM_015311.3

p.G456fs

c.1366_1367fs

1 paper

NM_015311.3

p.R460C

c.1378C>T

2 papers

NM_015311.3

p.W461*

c.1382G>A

1 paper

NM_015311.3

p.W461*

c.1383G>A

3 papers

NM_015311.3

p.R463insFs

c.1387dupC

2 papers

NM_015311.3

p.R463fs

c.1387_1388fs

1 paper

NM_015311.3

p.G443G

c.1329A>G

3 papers

NM_015311.3

p.V440I

c.1318G>A

3 papers

NM_015311.3

p.R436delFs

c.1306delG

2 papers

NM_015311.3

p.R436fs

c.1306_1307fs

1 paper

NM_015311.3

p.Q473P

c.1418A>C