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_000445.5

p.L4294_P4306del13

c.12880_12917del39

Surrounding Variants

1 paper

NM_201378.4

p.S4249F

c.12746C>T

1 paper

NM_201384.3

p.P4257S

c.12769C>T

1 paper

NM_201384.3

p.I4294_I4306del13

c.12880_12917del39

2 papers

NM_201384.3

p.S4249L

c.12746C>T

NM_000445.5

p.S4276L

c.12827C>T

1 paper

NM_201384.3

p.R4244H

c.12731G>A

5 papers

NM_201384.3

p.G4320insFs

c.12959dupG

NM_000445.5

p.G4347insFs

c.13040dupG

2 papers

NM_000445.5

p.G4347fs

c.13039_13040fs

2 papers

NM_201384.3

p.I4321fs

c.12961_12962fs

NM_000445.5

p.I4348fs

c.13042_13043fs

1 paper

NM_201384.3

p.D4323N

c.12967G>A

1 paper

NM_201384.3

p.E4231G

c.12692A>G

2 papers

NM_201381.3

p.G4193_T4194insFs

c.12578_12581dup4

1 paper

NM_201384.3

p.A4224T

c.12670G>A