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.E3988K

c.11962G>A

Surrounding Variants

2 papers

NM_201384.3

p.E3988fs

c.11962_11963fs

NM_000445.5

p.E4015fs

c.12043_12044fs

5 papers

NM_201384.3

p.E3988insFs

c.11962dupG

NM_000445.5

p.E4015insFs

c.12043dupG

1 paper

NM_201384.3

p.T3986K

c.11957C>A

1 paper

NM_201380.4

p.G4119_L4120del2

c.12355_12359del6

1 paper

NM_201384.3

p.I3977_D3978del2

c.11929_11933del6

1 paper

NM_201378.4

p.D3988insFs

c.11962dupG

1 paper

NM_201384.3

p.A3972insFs

c.11915_11916ins5

1 paper

NM_201384.3

p.K4001_D4002del2

c.12001_12005del6

1 paper

NM_201384.3

p.A3969T

c.11905G>A

1 paper

NM_201384.3

p.E4008K

c.12022G>A

1 paper

NM_201380.4

p.A4147T

c.12439G>A

1 paper

NM_201384.3

p.F3964insFs

c.11891_11892ins4