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.Q2719_L2727del9

c.8155_8180del27

Surrounding Variants

1 paper

NM_201381.3

p.V2680_T2693del14

c.8038_8078del42

1 paper

NM_201384.3

p.A2732V

c.8195C>T

1 paper

NM_201384.3

p.R2718K

c.8153G>A

2 papers

NM_201381.3

p.K2677_Q2685del9

c.8029_8054del27

1 paper

NM_201384.3

p.R2718W

c.8152A>T

1 paper

NM_201384.3

p.Q2717*

c.8149C>T

1 paper

NM_201379.3

p.L2680_A2693del14

c.8038_8078del42

1 paper

NM_201384.3

p.L2727_L2740del14

c.8179_8219del42

1 paper

NM_201384.3

p.A2714A

c.8142C>T

1 paper

NM_201384.3

p.D2741D

c.8223C>T

3 papers

NM_201384.3

p.P2742R

c.8225C>G

NM_000445.5

p.P2769R

c.8306C>G

1 paper

NM_201384.3

p.R2746W

c.8236C>T