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.C7672F

c.23015G>T

Surrounding Variants

1 paper

NM_001386125.1

p.C7672S

c.23015G>C

1 paper

NM_001386125.1

p.C7672S

c.23014T>A

1 paper

NM_001386125.1

p.A7670S

c.23008G>T

1 paper

NM_001386125.1

p.W7677*

c.23030G>A

1 paper

NM_001386125.1

p.W7677*

c.23031G>A

1 paper

NM_001386125.1

p.R7666L

c.22997G>T

1 paper

NM_001386125.1

p.A7662V

c.22985C>T

2 papers

NM_001386125.1

p.A7651T

c.22951G>A

1 paper

NM_001098623.2

p.E6692K

c.20074G>A

1 paper

NM_001386125.1

p.H7646R

c.22937A>G

1 paper

NM_001386125.1

p.V7637M

c.22909G>A

1 paper

NM_001386125.1

p.V7637_S7638delFs

c.22911_22912delGT