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.L69insFs

c.206dupT

Surrounding Variants

1 paper

NM_015311.3

p.T72P

c.214A>C

1 paper

NM_015311.3

p.T72I

c.215C>T

1 paper

NM_015311.3

p.D63G

c.188A>G

1 paper

NM_015311.3

p.E46Q

c.136G>C

1 paper

NM_015311.3

p.V44fs

c.130_131fs

1 paper

NM_015311.3

p.V43insFs

c.128_129insA

2 papers

NM_015311.3

p.A97P

c.289G>C

2 papers

NM_015311.3

p.P40R

c.119C>G

1 paper

NM_015311.3

p.A29_V35del7

c.85_104del21

1 paper

NM_015311.3

p.E103D

c.309G>C

1 paper

NM_015311.3

p.V35V

c.105C>G

1 paper

NM_015311.3

p.V35V

c.105C>A