Varaico: Literature-Extracted Genetic Variants

OBSCN

631 papers

RefSeq Summary

The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin...

Pfam Domains

I-setaa 10–99UCSCImmunoglobulin I-set domain

I-setaa 110–201UCSCImmunoglobulin I-set domain

I-setaa 241–328UCSCImmunoglobulin I-set domain

I-setaa 333–416UCSCImmunoglobulin I-set domain

I-setaa 422–502UCSCImmunoglobulin I-set domain

I-setaa 712–784UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF

HGNC Alias Symbols

KIAA1556; UNC89; KIAA1639; ARHGEF30

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001386125.1

p.Y182*

c.546C>A

Surrounding Variants

1 paper

NM_001386125.1

p.Y182*

c.546C>G

1 paper

NM_001386125.1

p.E183*

c.547G>T

1 paper

NM_001386125.1

p.R185C

c.553C>T

1 paper

NM_001386125.1

p.E187_N188delFs

c.559_562del4

1 paper

NM_001386125.1

p.N188delFs

c.563_564delAC

1 paper

NM_001386125.1

p.R177H

c.530G>A

1 paper

NM_001386125.1

p.A174T

c.520G>A

1 paper

NM_001386125.1

p.R172Q

c.515G>A

2 papers

NM_001386125.1

p.S194R

c.580A>C

2 papers

NM_001386125.1

p.S194R

c.582C>A

2 papers

NM_001386125.1

p.S194R

c.582C>G

1 paper

NM_001386125.1

p.A168A

c.504G>C