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.G428Splc

c.1283-18T>A

Surrounding Variants

1 paper

NM_015311.3

p.L431L

c.1293G>A

1 paper

NM_015311.3

p.R433C

c.1297C>T

2 papers

NM_015311.3

p.R436fs

c.1306_1307fs

3 papers

NM_015311.3

p.R436delFs

c.1306delG

3 papers

NM_015311.3

p.V440I

c.1318G>A

1 paper

NM_015311.3

p.G443G

c.1329A>G

1 paper

NM_015311.3

p.V426_K427del0

c.1276_1281del6

1 paper

NM_015311.3

p.V424_K427del4

c.1270_1280del12

1 paper

NM_015311.3

p.K427del1

c.1279_1280delTTT

4 papers

NM_015311.3

p.T425fs

c.1273_1274fs

26 papers

NM_015311.3

p.T425insFs

c.1273dupA

10 papers

NM_015311.3

p.T425fs

c.1273_1274fs