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.L1694P

c.5081T>C

Surrounding Variants

1 paper

NM_201384.3

p.E1693del1

c.5077_5079delCTC

2 papers

NM_201378.4

p.R1673_E1679delFs

c.5018_5036del19

1 paper

NM_201384.3

p.E1693D

c.5079G>T

1 paper

NM_201384.3

p.E1693D

c.5079G>C

1 paper

NM_201384.3

p.E1695K

c.5083G>A

7 papers

NM_201384.3

p.E1695delFs

c.5083delC

1 paper

NM_201384.3

p.E1693K

c.5077G>A

1 paper

NM_201378.4

p.Q1678delFs

c.5032delG

1 paper

NM_201378.4

p.L1675_E1677delFs

c.5024_5031del8

1 paper

NM_201383.3

p.E1695delFs

c.5083delC

1 paper

NM_201384.3

p.R1698W

c.5092C>T

1 paper

NM_201384.3

p.R1698Q

c.5093G>A