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_201383.3

p.V3902_R3903del2

c.11704_11708del6

Surrounding Variants

1 paper

NM_201384.3

p.V3898A

c.11693T>C

2 papers

NM_201384.3

p.V3902_M3903del2

c.11704_11708del6

1 paper

NM_201384.3

p.T3893I

c.11678C>T

3 papers

NM_201384.3

p.R3886delFs

c.11656delG

NM_000445.5

p.R3913delFs

c.11737delG

2 papers

NM_201384.3

p.R3886fs

c.11656_11657fs

NM_000445.5

p.R3913fs

c.11737_11738fs

1 paper

NM_201384.3

p.F3885S

c.11654T>C

1 paper

NM_201378.4

p.T3902_S3903del2

c.11704_11708del6

1 paper

NM_201384.3

p.A3880T

c.11638G>A

4 papers

NM_000445.5

p.L3902_P3903del2

c.11704_11708del6

1 paper

NM_201384.3

p.L3875delFs

c.11625delC

1 paper

NM_201379.3

p.N3902_L3903del2

c.11704_11708del6

1 paper

NM_201384.3

p.G3871S

c.11611G>A