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.S1439G

c.4315A>G

Surrounding Variants

1 paper

NM_015311.3

p.G1434E

c.4301G>A

1 paper

NM_015311.3

p.R1445*

c.4333C>T

1 paper

NM_015311.3

p.R1432Q

c.4295G>A

1 paper

NM_015311.3

p.R1432W

c.4294C>T

1 paper

NM_015311.3

p.E1446Splc

c.4336+36C>T

1 paper

NM_015311.3

p.R1419*

c.4255C>T

1 paper

NM_015311.3

p.Q1409*

c.4225C>T

1 paper

NM_015311.3

p.P1403H

c.4208C>A

1 paper

NM_015311.3

p.V1398I

c.4192G>A

1 paper

NM_015311.3

p.A1397delFs

c.4191delG

1 paper

NM_015311.3

p.R1380Q

c.4139G>A

2 papers

NM_015311.3

p.T1378M

c.4133C>T