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.L13R

c.38T>G

Surrounding Variants

1 paper

NM_001386125.1

p.L13insFs

c.37_38ins4

1 paper

NM_001386125.1

p.T14A

c.40A>G

1 paper

NM_001386125.1

p.T14S

c.40A>T

1 paper

NM_001386125.1

p.T14S

c.41C>G

4 papers

NM_001386125.1

p.F12Y

c.35T>A

1 paper

NM_001386125.1

p.A9T

c.25G>A

1 paper

NM_001386125.1

p.F19insFs

c.56_57ins13

1 paper

NM_001386125.1

p.P4insFs

c.12dupA

1 paper

NM_001386125.1

p.S22L

c.65C>T

1 paper

NM_001386125.1

p.D2_Q3ins4

c.6_7ins12

1 paper

NM_001386125.1

p.G24D

c.71G>A

1 paper

NM_001386125.1

p.M1I

c.3G>A