Varaico: Literature-Extracted Genetic Variants

PLEC

667 papers

RefSeq Summary

Plectin is a prominent member of an important family of structurally and in part functionally related proteins, termed plakins or cytolinkers, that are capable of interlinking different elements of th...

Pfam Domains

S10_plectinaa 7–101UCSCPlectin/S10 domain

CHaa 69–173UCSCCalponin homology (CH) domain

CHaa 185–291UCSCCalponin homology (CH) domain

Spectrin_4aa 417–516UCSCSpectrin-like repeat

Spectrin_3aa 752–819UCSCSpectrin-like repeat

SH3_10aa 820–886UCSCSH3 domain

Gene Aliases

HGNC Name

plectin

HGNC Previous Symbols

EBS1; PLEC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_201384.3

p.K3944delFs

c.11831delT

Surrounding Variants

1 paper

NM_201384.3

p.E3945K

c.11833G>A

1 paper

NM_201384.3

p.K3944fs

c.11830_11831fs

1 paper

NM_201384.3

p.M3953T

c.11858T>C

1 paper

NM_201381.3

p.C3902_I3903del2

c.11704_11708del6

1 paper

NM_201380.4

p.G4098S

c.12292G>A

1 paper

NM_201379.3

p.N3902_L3903del2

c.11704_11708del6

1 paper

NM_201384.3

p.F3964insFs

c.11891_11892ins4

1 paper

NM_201384.3

p.A3969T

c.11905G>A

1 paper

NM_201378.4

p.T3902_S3903del2

c.11704_11708del6

1 paper

NM_201384.3

p.A3972insFs

c.11915_11916ins5

1 paper

NM_201384.3

p.I3977_D3978del2

c.11929_11933del6

1 paper

NM_201380.4

p.G4119_L4120del2

c.12355_12359del6