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.R2002Q

c.6005G>A

Surrounding Variants

1 paper

NM_201384.3

p.R2002W

c.6004C>T

2 papers

NM_201383.3

p.A2005S

c.6013G>T

4 papers

NM_201384.3

p.R2004W

c.6010C>T

1 paper

NM_201384.3

p.R2004Q

c.6011G>A

1 paper

NM_201384.3

p.E1999K

c.5995G>A

1 paper

NM_201384.3

p.A2007V

c.6020C>T

1 paper

NM_201384.3

p.L2008L

c.6022C>T

2 papers

NM_000445.5

p.A2023delFs

c.6067delC

1 paper

NM_000445.5

p.A2023fs

c.6067_6068fs

1 paper

NM_000445.5

p.A2022T

c.6064G>A

1 paper

NM_201384.3

p.E2010K

c.6028G>A

1 paper

NM_201384.3

p.L1994Q

c.5981T>A