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.D4054_P4055del2

c.12160_12164del6

Surrounding Variants

2 papers

NM_201380.4

p.E4193_E4194insFs

c.12578_12581dup4

1 paper

NM_201384.3

p.G4050_E4057del8

c.12148_12170del24

1 paper

NM_201378.4

p.I4038_I4039del2

c.12112_12116del6

1 paper

NM_201384.3

p.A4045V

c.12134C>T

1 paper

NM_201384.3

p.H4038_G4039del2

c.12112_12116del6

1 paper

NM_201379.3

p.D4015insFs

c.12043dupG

1 paper

NM_201384.3

p.M4076T

c.12227T>C

3 papers

NM_000445.5

p.D4119_P4120del2

c.12355_12359del6

1 paper

NM_201384.3

p.T4100I

c.12299C>T

1 paper

NM_201383.3

p.V4015insFs

c.12043dupG

1 paper

NM_201384.3

p.Y4101del1

c.12301_12303delGTA

1 paper

NM_201380.4

p.A4147T

c.12439G>A