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

3 papers

NM_001386125.1

p.A998G

c.2993C>G

Surrounding Variants

2 papers

NM_001386125.1

p.A1000T

c.2998G>A

1 paper

NM_001386125.1

p.A996V

c.2987C>T

4 papers

NM_001386125.1

p.A996fs

c.2986_2987fs

1 paper

NM_001386125.1

p.T1001I

c.3002C>T

1 paper

NM_001386125.1

p.C1004R

c.3010T>C

1 paper

NM_001386125.1

p.R990M

c.2969G>T

1 paper

NM_001386125.1

p.A1007S

c.3019G>T

1 paper

NM_001386125.1

p.R989C

c.2965C>T

2 papers

NM_001386125.1

p.V1013E

c.3038T>A

1 paper

NM_001386125.1

p.V980M

c.2938G>A

1 paper

NM_001386125.1

p.K979M

c.2936A>T

1 paper

NM_001386125.1

p.K1020*

c.3058A>T