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

2 papers

NM_201384.3

p.D23insFs

c.67_68insG

Surrounding Variants

1 paper

NM_201384.3

p.D23insFs

c.68dupA

4 papers

NM_201384.3

p.N24insFs

c.70_71insG

1 paper

NM_201384.3

p.S20_N24delFs

c.58_70del13

2 papers

NM_201384.3

p.L25P

c.74T>C

1 paper

NM_201384.3

p.N24delFs

c.72delG

1 paper

NM_201384.3

p.S21L

c.62C>T

1 paper

NM_201384.3

p.R18R

c.54A>G

1 paper

NM_201384.3

p.R18S

c.54A>C

1 paper

NM_201384.3

p.K17*

c.49A>T

1 paper

NM_201384.3

p.A28_V29del2

c.82_86del6

1 paper

NM_201384.3

p.R16insFs

c.46_47insC

9 papers

NM_201384.3

p.R16*

c.46C>T