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.K1753insFs

c.5257_5258insG

Surrounding Variants

1 paper

NM_201384.3

p.R1750W

c.5248C>T

1 paper

NM_201383.3

p.K1753insFs

c.5257dupA

1 paper

NM_201384.3

p.L1753insFs

c.5257_5258insG

1 paper

NM_201384.3

p.L1753insFs

c.5258_5259insG

1 paper

NM_201384.3

p.L1753insFs

c.5257dupC

1 paper

NM_000445.5

p.A1770insFs

c.5309_5310insG

1 paper

NM_201384.3

p.A1755_E1756ins8

c.5263_5267ins24

2 papers

NM_201384.3

p.E1756K

c.5266G>A

2 papers

NM_201384.3

p.L1757L

c.5269C>T

1 paper

NM_201378.4

p.Q1726insFs

c.5176dupC

2 papers

NM_201381.3

p.E1702_L1704delFs

c.5105_5112del8

1 paper

NM_201384.3

p.E1735K

c.5203G>A