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_001098623.2

p.E4387D

c.13161G>C

Surrounding Variants

1 paper

NM_001098623.2

p.E4387D

c.13161G>T

1 paper

NM_001386125.1

p.N5350D

c.16048A>G

1 paper

NM_001386125.1

p.H5338R

c.16013A>G

1 paper

NM_001386125.1

p.V5337M

c.16009G>A

1 paper

NM_001386125.1

p.R5362W

c.16084C>T

1 paper

NM_001386125.1

p.A5327T

c.15979G>A

1 paper

NM_001386125.1

p.A5327S

c.15979G>T

1 paper

NM_001386125.1

p.P5363P

c.16089A>G

2 papers

NM_001386125.1

p.T5378M

c.16133C>T

1 paper

NM_001386125.1

p.L5309P

c.15926T>C

1 paper

NM_001386125.1

p.T5383M

c.16148C>T

11 papers

NM_001098623.2

p.R4344Q

c.13031G>A