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.V4381delFs

c.13142_13143delTG

Surrounding Variants

1 paper

NM_001386125.1

p.S4388*

c.13163C>A

1 paper

NM_001386125.1

p.S4388*

c.13163C>G

1 paper

NM_001386125.1

p.E4394Q

c.13180G>C

5 papers

NM_001386125.1

p.T4399M

c.13196C>T

1 paper

NM_001386125.1

p.R4403delFs

c.13207delA

1 paper

NM_001386125.1

p.R4403fs

c.13207_13208fs

1 paper

NM_001386125.1

p.E4355K

c.13063G>A

1 paper

NM_001386125.1

p.P4354S

c.13060C>T

1 paper

NM_001386125.1

p.G4353S

c.13057G>A

1 paper

NM_001386125.1

p.T4335I

c.13004C>T

1 paper

NM_001386125.1

p.A4330V

c.12989C>T

1 paper

NM_001386125.1

p.K4328N

c.12984G>C