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.S1770N

c.5309G>A

Surrounding Variants

4 papers

NM_201384.3

p.S1770insFs

c.5309_5310insG

1 paper

NM_201378.4

p.A1758V

c.5273C>T

1 paper

NM_201378.4

p.L1753insFs

c.5257dupC

1 paper

NM_201378.4

p.L1753insFs

c.5257_5258insG

1 paper

NM_201383.3

p.V1770insFs

c.5309_5310insG

2 papers

NM_201379.3

p.E1753insFs

c.5257dupG

1 paper

NM_201384.3

p.E1765*

c.5293G>T

1 paper

NM_201379.3

p.E1753fs

c.5257_5258fs

1 paper

NM_201384.3

p.E1776G

c.5327A>G

5 papers

NM_201384.3

p.E1777*

c.5329G>T

NM_000445.5

p.E1804*

c.5410G>T

NM_201380.4

p.E1914*

c.5740G>T

2 papers

NM_201384.3

p.L1757L

c.5269C>T

1 paper

NM_201378.4

p.K1770insFs

c.5309_5310insG