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.A51V

c.152C>T

Surrounding Variants

1 paper

NM_001386125.1

p.R55C

c.163C>T

1 paper

NM_001386125.1

p.Q47E

c.139C>G

1 paper

NM_001386125.1

p.R57H

c.170G>A

1 paper

NM_001386125.1

p.A59insFs

c.176_177ins19

1 paper

NM_001386125.1

p.G62R

c.184G>C

1 paper

NM_001386125.1

p.G62C

c.184G>T

2 papers

NM_001386125.1

p.D63N

c.187G>A

1 paper

NM_001386125.1

p.L64V

c.190C>G

1 paper

NM_001386125.1

p.L67P

c.200T>C

1 paper

NM_001386125.1

p.I69F

c.205A>T

1 paper

NM_001386125.1

p.A73V

c.218C>T

1 paper

NM_001386125.1

p.G24D

c.71G>A