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.Q502*

c.1504C>T

Surrounding Variants

1 paper

NM_001386125.1

p.Q502P

c.1505A>C

5 papers

NM_001386125.1

p.Q502R

c.1505A>G

1 paper

NM_001386125.1

p.A494T

c.1480G>A

1 paper

NM_001386125.1

p.V490M

c.1468G>A

1 paper

NM_001386125.1

p.G488R

c.1462G>C

1 paper

NM_001386125.1

p.E485K

c.1453G>A

1 paper

NM_001386125.1

p.Q481Q

c.1443G>A

1 paper

NM_001386125.1

p.R474C

c.1420C>T

1 paper

NM_001386125.1

p.R465H

c.1394G>A

1 paper

NM_001386125.1

p.R465C

c.1393C>T

1 paper

NM_001386125.1

p.Q457H

c.1371G>T

1 paper

NM_001386125.1

p.W453_L454insFs

c.1359_1360insA