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

3 papers

NM_015311.3

p.C13fs

c.37_38fs

Surrounding Variants

1 paper

NM_015311.3

p.S10_P12delFs

c.29_35del7

5 papers

NM_015311.3

p.P12insFs

c.35dupC

1 paper

NM_015311.3

p.A3delFs

c.8delG

1 paper

NM_015311.3

p.A3insFs

c.7dupG

1 paper

NM_015311.3

p.V24A

c.71T>C

1 paper

NM_015311.3

p.M1delins

c.1_2delinsTC

1 paper

NM_015311.3

p.A27S

c.79G>T

2 papers

NM_015311.3

p.E28K

c.82G>A

1 paper

NM_015311.3

p.E28_A29insFs

c.84_85insT

1 paper

NM_015311.3

p.E28insFs

c.84dupG

1 paper

NM_015311.3

p.V35V

c.105C>G

1 paper

NM_015311.3

p.V35V

c.105C>A