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_201378.4

p.D3038_M3039del2

c.9112_9116del6

Surrounding Variants

1 paper

NM_201384.3

p.D3052N

c.9154G>A

1 paper

NM_201384.3

p.P3050L

c.9149C>T

2 papers

NM_201381.3

p.Q3029*

c.9085C>T

1 paper

NM_201384.3

p.D3047N

c.9139G>A

1 paper

NM_201384.3

p.T3064T

c.9192C>G

1 paper

NM_201384.3

p.G3065insFs

c.9194dupG

1 paper

NM_201384.3

p.H3066R

c.9197A>G

1 paper

NM_201384.3

p.L3038_S3039del2

c.9112_9116del6

1 paper

NM_201384.3

p.S3039N

c.9116G>A

1 paper

NM_201384.3

p.S3039fs

c.9115_9116fs

4 papers

NM_201384.3

p.L3038insFs

c.9113dupT

NM_000445.5

p.L3065insFs

c.9194dupT

1 paper

NM_201384.3

p.A3071V

c.9212C>T