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.H2048Q

c.6144C>G

Surrounding Variants

1 paper

NM_001386125.1

p.H2048Q

c.6144C>A

2 papers

NM_001386125.1

p.H2048R

c.6143A>G

1 paper

NM_001386125.1

p.A2051_G2053delFs

c.6153_6157del5

1 paper

NM_001386125.1

p.S2052S

c.6156C>T

1 paper

NM_001386125.1

p.D2037E

c.6111C>A

1 paper

NM_001386125.1

p.D2037E

c.6111C>G

1 paper

NM_001386125.1

p.D2037N

c.6109G>A

5 papers

NM_001386125.1

p.W2034*

c.6102G>A

4 papers

NM_001386125.1

p.W2034*

c.6101G>A

1 paper

NM_001386125.1

p.E2074E

c.6222G>A

1 paper

NM_001386125.1

p.A2075V

c.6224C>T

1 paper

NM_001386125.1

p.A2019V

c.6056C>T