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.M7876I

c.23628G>A

Surrounding Variants

1 paper

NM_001386125.1

p.M7876I

c.23628G>C

1 paper

NM_001386125.1

p.M7876I

c.23628G>T

1 paper

NM_001386125.1

p.V7880M

c.23638G>A

1 paper

NM_001386125.1

p.A7867P

c.23599G>C

1 paper

NM_001386125.1

p.R7887S

c.23661G>C

1 paper

NM_001386125.1

p.R7887S

c.23661G>T

1 paper

NM_001386125.1

p.Q7890*

c.23668C>T

1 paper

NM_001386125.1

p.G7862R

c.23584G>A

1 paper

NM_001098623.2

p.R6899W

c.20695C>T

1 paper

NM_001386125.1

p.R7850W

c.23548C>T

1 paper

NM_001386125.1

p.H7912delFs

c.23734delC

1 paper

NM_001386125.1

p.G7842R

c.23524G>A