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.V158M

c.472G>A

Surrounding Variants

1 paper

NM_001386125.1

p.R157C

c.469C>T

1 paper

NM_001386125.1

p.D154N

c.460G>A

1 paper

NM_001386125.1

p.P153L

c.458C>T

1 paper

NM_001386125.1

p.L163P

c.488T>C

1 paper

NM_001386125.1

p.E165V

c.494A>T

1 paper

NM_001386125.1

p.R149H

c.446G>A

1 paper

NM_001386125.1

p.R149C

c.445C>T

1 paper

NM_001386125.1

p.A168A

c.504G>C

1 paper

NM_001386125.1

p.G147R

c.439G>A

1 paper

NM_001386125.1

p.G147R

c.439G>C

1 paper

NM_001386125.1

p.W143*

c.429G>A

1 paper

NM_001386125.1

p.R172Q

c.515G>A