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.Q7705_R7706Splc

c.23115+54G>A

Surrounding Variants

1 paper

NM_001386125.1

p.R7701Q

c.23102G>A

1 paper

NM_001386125.1

p.R7701*

c.23101C>T

1 paper

NM_001386125.1

p.K7696Q

c.23086A>C

2 papers

NM_001386125.1

p.Q7694*

c.23080C>T

1 paper

NM_001386125.1

p.H7688Y

c.23062C>T

1 paper

NM_001386125.1

p.Q7705_R7706Splc

c.23116-9C>A

1 paper

NM_001386125.1

p.R7706C

c.23116C>T

1 paper

NM_001386125.1

p.R7718C

c.23152C>T

1 paper

NM_001386125.1

p.D7742H

c.23224G>C

1 paper

NM_001386125.1

p.S7749del1

c.23245_23247delTCC

1 paper

NM_001386125.1

p.S7753del1

c.23257_23258delTCT

1 paper

NM_001386125.1

p.R7762W

c.23284C>T