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.P7805Q

c.23414C>A

Surrounding Variants

2 papers

NM_001386125.1

p.A7807T

c.23419G>A

1 paper

NM_001386125.1

p.S7796fs

c.23386_23387fs

7 papers

NM_001098623.2

p.A6838_S6839delFs

c.20514_20515delCA

NM_001386125.1

p.A7795_S7796delFs

c.23385_23386delCA

1 paper

NM_001098623.2

p.A6838_S6839del2

c.20512_20516del6

1 paper

NM_001386125.1

p.E7792*

c.23374G>T

1 paper

NM_001386125.1

p.V7821M

c.23461G>A

1 paper

NM_001386125.1

p.S7786L

c.23357C>T

1 paper

NM_001386125.1

p.R7784Q

c.23351G>A

1 paper

NM_001386125.1

p.R7784W

c.23350C>T

1 paper

NM_001386125.1

p.R7828delFs

c.23482delC

1 paper

NM_001386125.1

p.R7828C

c.23482C>T

1 paper

NM_001386125.1

p.R7828fs

c.23482_23483fs