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.Q950H

c.2850G>T

Surrounding Variants

1 paper

NM_001386125.1

p.Q950H

c.2850G>C

1 paper

NM_001386125.1

p.V952L

c.2854G>T

1 paper

NM_001386125.1

p.Q954R

c.2861A>G

1 paper

NM_001386125.1

p.R946M

c.2837G>T

1 paper

NM_001386125.1

p.A955V

c.2864C>T

1 paper

NM_001386125.1

p.R945Q

c.2834G>A

1 paper

NM_001386125.1

p.R945W

c.2833C>T

1 paper

NM_001386125.1

p.S957_G958insTG

c.2869_2873ins6

5 papers

NM_001386125.1

p.E963K

c.2887G>A

1 paper

NM_001386125.1

p.E963*

c.2887G>T

3 papers

NM_001386125.1

p.R965K

c.2894G>A

1 paper

NM_001386125.1

p.S934S

c.2802G>A