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

1–12 of 429 variants

26 papers

NM_015311.3

p.T425insFs

c.1273dupA

11 papers

NM_015311.3

p.G153insFs

c.458dupG

10 papers

NM_015311.3

p.T425fs

c.1273_1274fs

9 papers

NM_015311.3

p.L453insFs

c.1359dupA

8 papers

NM_015311.3

p.T488I

c.1463C>T

7 papers

NM_015311.3

p.P230insFs

c.690dupC

7 papers

NM_015311.3

p.W1114*

c.3341G>A

7 papers

NM_015311.3

p.E1365D

c.4095G>T

7 papers

NM_015311.3

p.E1365D

c.4095G>C

6 papers

NM_015311.3

p.G153Fs

c.457_458delinsTFs

6 papers

NM_015311.3

p.L154fs

c.460_461fs

6 papers

NM_015311.3

p.W1114*

c.3342G>A