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.L423H

c.1268T>A

Surrounding Variants

1 paper

NM_001386125.1

p.R424_P427del4

c.1270_1280del12

1 paper

NM_001386125.1

p.R433C

c.1297C>T

1 paper

NM_001386125.1

p.G435G

c.1305C>A

3 papers

NM_001386125.1

p.V442L

c.1324G>C

3 papers

NM_001386125.1

p.V442L

c.1324G>T

1 paper

NM_001386125.1

p.V451F

c.1351G>T

1 paper

NM_001386125.1

p.V451A

c.1352T>C

1 paper

NM_001386125.1

p.W453_L454insFs

c.1359_1360insA

1 paper

NM_001386125.1

p.Q457H

c.1371G>T

1 paper

NM_001386125.1

p.R465C

c.1393C>T

1 paper

NM_001386125.1

p.R465H

c.1394G>A

1 paper

NM_001386125.1

p.R474C

c.1420C>T