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.R2027_A2028insFs

c.6081_6082insC

Surrounding Variants

2 papers

NM_201384.3

p.R2027*

c.6079C>T

NM_201378.4

p.R2013*

c.6037C>T

5 papers

NM_201384.3

p.Q2030*

c.6088C>T

NM_000445.5

p.Q2057*

c.6169C>T

1 paper

NM_000445.5

p.E2058*

c.6172G>T

1 paper

NM_201384.3

p.R2023delFs

c.6067delG

2 papers

NM_000445.5

p.A2060V

c.6179C>T

NM_201378.4

p.A2019V

c.6056C>T

2 papers

NM_201379.3

p.R2000W

c.5998C>T

1 paper

NM_201384.3

p.L2036L

c.6106C>T

1 paper

NM_201384.3

p.E2019G

c.6056A>G

2 papers

NM_201378.4

p.E2005*

c.6013G>T

1 paper

NM_000445.5

p.A2066T

c.6196G>A

1 paper

NM_201384.3

p.A2039V

c.6116C>T

1 paper

NM_201384.3

p.K2015N

c.6045A>T