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.I119V

c.355A>G

Surrounding Variants

1 paper

NM_001386125.1

p.R120L

c.359G>T

1 paper

NM_001386125.1

p.P116L

c.347C>T

1 paper

NM_001386125.1

p.E123K

c.367G>A

1 paper

NM_001386125.1

p.F112Y

c.335T>A

1 paper

NM_001386125.1

p.A109T

c.325G>A

1 paper

NM_001386125.1

p.F129L

c.385T>C

1 paper

NM_001386125.1

p.Q108H

c.324G>C

1 paper

NM_001386125.1

p.F129Y

c.386T>A

3 papers

NM_001386125.1

p.F129delins

c.386_387delinsAA

1 paper

NM_001386125.1

p.F129L

c.387C>A

1 paper

NM_001386125.1

p.F129L

c.387C>G

1 paper

NM_001386125.1

p.E102delFs

c.304_305delGA