Varaico: Literature-Extracted Genetic Variants

DST

544 papers

RefSeq Summary

This gene encodes a member of the plakin protein family of adhesion junction plaque proteins. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gen...

Pfam Domains

CHaa 35–139UCSCCalponin homology (CH) domain

CHaa 151–256UCSCCalponin homology (CH) domain

Spectrin_4aa 382–481UCSCSpectrin-like repeat

Gene Aliases

HGNC Name

dystonin

HGNC Previous Symbol

BPAG1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001374736.1

p.H302L

c.905A>T

Surrounding Variants

9 papers

NM_001144769.5

p.H269R

c.806A>G

NM_001374736.1

p.H302R

c.905A>G

1 paper

NM_001374736.1

p.Q305*

c.913C>T

2 papers

NM_001374736.1

p.R298R

c.894G>T

1 paper

NM_001374736.1

p.Q318*

c.952C>T

1 paper

NM_001374736.1

p.E289A

c.866A>C

1 paper

NM_001374736.1

p.E287D

c.861G>T

1 paper

NM_001374736.1

p.A274A

c.822A>G

1 paper

NM_001374736.1

p.R270_L271insFs

c.810_813dup4

1 paper

NM_001374736.1

p.V272fs

c.814_815fs

1 paper

NM_001374736.1

p.R270*

c.808C>T

1 paper

NM_001374736.1

p.F265Y

c.794T>A

1 paper

NM_001374736.1

p.F265V

c.793T>G