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.P7951delFs

c.23853delT

Surrounding Variants

3 papers

NM_001098623.2

p.A6993P

c.20977G>C

NM_001386125.1

p.A7950P

c.23848G>C

4 papers

NM_001386125.1

p.A7950fs

c.23848_23849fs

1 paper

NM_001386125.1

p.G7948A

c.23843G>C

2 papers

NM_001386125.1

p.G7948fs

c.23842_23843fs

1 paper

NM_001386125.1

p.G7948delFs

c.23842delG

3 papers

NM_001098623.2

p.S6990P

c.20968T>C

NM_001386125.1

p.S7947P

c.23839T>C

5 papers

NM_001386125.1

p.S7947fs

c.23839_23840fs

1 paper

NM_001386125.1

p.S7947delFs

c.23839delT

1 paper

NM_001386125.1

p.A7945fs

c.23833_23834fs

5 papers

NM_001098623.2

p.A6988delFs

c.20963delC

NM_001386125.1

p.A7945delFs

c.23834delC

1 paper

NM_001386125.1

p.A7935insFs

c.23803dupG

1 paper

NM_001386125.1

p.S7933*

c.23798C>A