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.A255E

c.764C>A

Surrounding Variants

2 papers

NM_001386125.1

p.R256C

c.766C>T

2 papers

NM_001386125.1

p.Y260C

c.779A>G

1 paper

NM_001386125.1

p.T262S

c.785C>G

1 paper

NM_001386125.1

p.R245H

c.734G>A

2 papers

NM_001386125.1

p.R245C

c.733C>T

2 papers

NM_001386125.1

p.T244M

c.731C>T

1 paper

NM_001386125.1

p.E268K

c.802G>A

2 papers

NM_001386125.1

p.E268*

c.802G>T

1 paper

NM_001386125.1

p.A237fs

c.709_710fs

1 paper

NM_001386125.1

p.G275G

c.825C>T

1 paper

NM_001386125.1

p.A235T

c.703G>A

1 paper

NM_001386125.1

p.P236delFs

c.708delC