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

2 papers

NM_201383.3

p.L2421L

c.7261C>T

Surrounding Variants

1 paper

NM_201384.3

p.R2419C

c.7255C>T

1 paper

NM_201384.3

p.R2419H

c.7256G>A

1 paper

NM_201384.3

p.G2414_E2415insA

c.7240_7244ins3

1 paper

NM_201384.3

p.T2420T

c.7260G>A

3 papers

NM_201380.4

p.A2560T

c.7678G>A

NM_201384.3

p.A2423T

c.7267G>A

1 paper

NM_201384.3

p.L2422delFs

c.7265_7266delGA

1 paper

NM_201384.3

p.A2423V

c.7268C>T

1 paper

NM_201384.3

p.Q2425*

c.7273C>T

1 paper

NM_201384.3

p.E2401_A2403del0

c.7202_7207del6

1 paper

NM_201384.3

p.R2398C

c.7192C>T

1 paper

NM_201384.3

p.A2397T

c.7189G>A

1 paper

NM_000445.5

p.Q2464*

c.7390C>T