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_201380.4

p.R2821Q

c.8462G>A

Surrounding Variants

1 paper

NM_201380.4

p.R2822W

c.8464C>T

5 papers

NM_201384.3

p.T2677_R2685del9

c.8029_8054del27

1 paper

NM_201384.3

p.L2682L

c.8046C>T

1 paper

NM_201384.3

p.L2682F

c.8044C>T

2 papers

NM_201383.3

p.A2677_E2685del9

c.8029_8054del27

1 paper

NM_201384.3

p.V2679L

c.8035G>C

1 paper

NM_201383.3

p.H2680_R2693del14

c.8038_8078del42

1 paper

NM_201384.3

p.Q2693*

c.8077C>T

1 paper

NM_201384.3

p.D2680_Q2693del14

c.8038_8078del42

1 paper

NM_201384.3

p.R2695C

c.8083C>T

1 paper

NM_201384.3

p.R2695H

c.8084G>A

1 paper

NM_201384.3

p.H2690_R2695delins

c.8068_8084delinsGA