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

1–12 of 1510 variants

7 papers

NM_001098623.2

p.R4344Q

c.13031G>A

6 papers

NM_001386125.1

p.A7795_S7796delFs

c.23385_23386delCA

6 papers

NM_001386125.1

p.D8456Splc

c.25367-1G>C

5 papers

NM_001386125.1

p.Q303L

c.908A>T

5 papers

NM_001386125.1

p.Q502R

c.1505A>G

5 papers

NM_001386125.1

p.A908T

c.2722G>A

5 papers

NM_001386125.1

p.E963K

c.2887G>A

5 papers

NM_001386125.1

p.W2034*

c.6102G>A

5 papers

NM_001386125.1

p.T4399M

c.13196C>T

5 papers

NM_001386125.1

p.S7947fs

c.23839_23840fs

4 papers

NM_001386125.1

p.F12Y

c.35T>A

4 papers

NM_001386125.1

p.A996fs

c.2986_2987fs