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.R1038K

c.3113G>A

Surrounding Variants

1 paper

NM_001386125.1

p.R1037C

c.3109C>T

1 paper

NM_001386125.1

p.G1034delFs

c.3101delG

1 paper

NM_001386125.1

p.A1049delFs

c.3147delC

1 paper

NM_001386125.1

p.K1027R

c.3080A>G

2 papers

NM_001386125.1

p.G1050R

c.3148G>A

2 papers

NM_001386125.1

p.G1050R

c.3148G>C

1 paper

NM_001386125.1

p.S1053C

c.3157A>T

7 papers

NM_001386125.1

p.E1055K

c.3163G>A

NM_001098623.2

p.E963K

c.2887G>A

1 paper

NM_001386125.1

p.E1055*

c.3163G>T

1 paper

NM_001386125.1

p.K1021M

c.3062A>T

1 paper

NM_001386125.1

p.K1020*

c.3058A>T

1 paper

NM_001386125.1

p.R1060Q

c.3179G>A