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

7 papers

NM_015311.3

p.E1365D

c.4095G>T

Surrounding Variants

7 papers

NM_015311.3

p.E1365D

c.4095G>C

1 paper

NM_015311.3

p.L1362delFs

c.4085delA

1 paper

NM_015311.3

p.T1370_V1371delFs

c.4108_4111del4

1 paper

NM_015311.3

p.H1372delFs

c.4115delT

1 paper

NM_015311.3

p.E1373K

c.4117G>A

2 papers

NM_015311.3

p.P1357S

c.4069C>T

1 paper

NM_015311.3

p.D1375N

c.4123G>A

2 papers

NM_015311.3

p.T1378M

c.4133C>T

1 paper

NM_015311.3

p.R1380Q

c.4139G>A

1 paper

NM_015311.3

p.E1356Splc

c.4067-60G>C

1 paper

NM_015311.3

p.V1398I

c.4192G>A

1 paper

NM_015311.3

p.A1397delFs

c.4191delG