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.A4508T

c.13522G>A

Surrounding Variants

1 paper

NM_201378.4

p.S4487_F4492insFs

c.13459_13474dup16

1 paper

NM_201378.4

p.G4486_S4491insFs

c.13458_13473dup16

1 paper

NM_201384.3

p.F4506V

c.13516T>G

1 paper

NM_201384.3

p.R4503R

c.13509C>T

1 paper

NM_201380.4

p.R4640H

c.13919G>A

1 paper

NM_201384.3

p.S4501_R4502del2

c.13501_13505del6

1 paper

NM_201379.3

p.A4486_F4491insFs

c.13458_13473dup16

1 paper

NM_201379.3

p.T4487_S4492insFs

c.13459_13474dup16

1 paper

NM_201378.4

p.A4485S

c.13453G>T

1 paper

NM_201384.3

p.G4496S

c.13486G>A

1 paper

NM_201384.3

p.S4493S

c.13479G>A

2 papers

NM_201384.3

p.A4487_G4492insFs

c.13459_13474dup16