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.K427del1

c.1279_1280delTTT

Surrounding Variants

1 paper

NM_015311.3

p.V426_K427del0

c.1276_1281del6

1 paper

NM_015311.3

p.V424_K427del4

c.1270_1280del12

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

3 papers

NM_015311.3

p.R419_A422delFs

c.1256_1265del10

2 papers

NM_015311.3

p.T420insFs

c.1260dupC

1 paper

NM_015311.3

p.V421fs

c.1261_1262fs

1 paper

NM_015311.3

p.R419H

c.1256G>A

3 papers

NM_015311.3

p.R419C

c.1255C>T

1 paper

NM_015311.3

p.R415_G416ins6

c.1245_1246ins18

1 paper

NM_015311.3

p.R415W

c.1243C>T