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

5 papers

NM_015311.3

p.R1454Q

c.4361G>A

Surrounding Variants

1 paper

NM_015311.3

p.R1453W

c.4357C>T

1 paper

NM_015311.3

p.R1459Q

c.4376G>A

1 paper

NM_015311.3

p.R1459R

c.4377G>T

1 paper

NM_015311.3

p.G1463S

c.4387G>A

3 papers

NM_015311.3

p.D1465D

c.4395T>C

1 paper

NM_015311.3

p.R1474L

c.4421G>T

5 papers

NM_015311.3

p.A1477T

c.4429G>A

1 paper

NM_015311.3

p.V1481M

c.4441G>A

1 paper

NM_015311.3

p.R1485*

c.4453C>T

1 paper

NM_015311.3

p.D1493N

c.4477G>A

1 paper

NM_015311.3

p.R1495C

c.4483C>T

1 paper

NM_015311.3

p.M1498T

c.4493T>C