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.A313V

c.938C>T

Surrounding Variants

1 paper

NM_001386125.1

p.T320insFs

c.958_959insTG

2 papers

NM_001386125.1

p.R306H

c.917G>A

1 paper

NM_001386125.1

p.R306_G307delFs

c.917_920del4

1 paper

NM_001386125.1

p.D305D

c.915C>T

1 paper

NM_001386125.1

p.S304*

c.911C>A

1 paper

NM_001386125.1

p.S304_D305del2

c.910_914del6

1 paper

NM_001386125.1

p.S323fs

c.967_968fs

5 papers

NM_001386125.1

p.Q303L

c.908A>T

1 paper

NM_001386125.1

p.F300L

c.900C>A

1 paper

NM_001386125.1

p.A290V

c.869C>T

1 paper

NM_001386125.1

p.A290T

c.868G>A

1 paper

NM_001386125.1

p.E288insFs

c.862_863ins16