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

6 papers

NM_001386125.1

p.D8456Splc

c.25367-1G>C

Surrounding Variants

6 papers

NM_001098623.2

p.G7500R

c.22498G>A

NM_001386125.1

p.G8457R

c.25369G>A

6 papers

NM_001098623.2

p.G7500R

c.22498G>C

NM_001386125.1

p.G8457R

c.25369G>C

1 paper

NM_001386125.1

p.E8461A

c.25382A>C

1 paper

NM_001386125.1

p.S8462N

c.25385G>A

1 paper

NM_001098623.2

p.K7516N

c.22548G>C

1 paper

NM_001098623.2

p.K7516N

c.22548G>T

1 paper

NM_001386125.1

p.A8498A

c.25494G>A

1 paper

NM_001386125.1

p.V8507I

c.25519G>A

1 paper

NM_001386125.1

p.R8509W

c.25525C>T

1 paper

NM_001386125.1

p.D8456Splc

c.25366+1G>T

1 paper

NM_001098623.2

p.D7499Y

c.22495G>T

1 paper

NM_001386125.1

p.Q8450P

c.25349A>C