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.S204insFs

c.612dupC

Surrounding Variants

1 paper

NM_015311.3

p.Y207*

c.621C>G

1 paper

NM_015311.3

p.Y207*

c.621C>A

1 paper

NM_015311.3

p.A211T

c.631G>A

3 papers

NM_015311.3

p.L194L

c.580C>T

3 papers

NM_015311.3

p.A190G

c.569C>G

1 paper

NM_015311.3

p.A222fs

c.664_665fs

1 paper

NM_015311.3

p.P188S

c.562C>T

1 paper

NM_015311.3

p.A222delFs

c.664delC

1 paper

NM_015311.3

p.E185K

c.553G>A

1 paper

NM_015311.3

p.Q225P

c.674A>C

1 paper

NM_015311.3

p.Q228*

c.682C>T

2 papers

NM_015311.3

p.H227_Q228delins

c.681_682delinsTT