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.V332L

c.994G>T

Surrounding Variants

1 paper

NM_015311.3

p.V332L

c.994G>C

1 paper

NM_015311.3

p.N323_A331Fs

c.967_993delinsCAGCTGGFs

1 paper

NM_015311.3

p.V336L

c.1006G>T

1 paper

NM_015311.3

p.V336L

c.1006G>C

2 papers

NM_015311.3

p.L316_R322delFs

c.947_966del20

1 paper

NM_015311.3

p.V318D

c.953T>A

1 paper

NM_015311.3

p.Y317*

c.951C>G

1 paper

NM_015311.3

p.Y317*

c.951C>A

3 papers

NM_015311.3

p.Q310*

c.928C>T

3 papers

NM_015311.3

p.L307L

c.921T>C

1 paper

NM_015311.3

p.D299V

c.896A>T

1 paper

NM_015311.3

p.L293F

c.877C>T