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_000445.5

p.M1_R9del9

c.1_26del27

Surrounding Variants

1 paper

NM_000445.5

p.A6T

c.16G>A

1 paper

NM_000445.5

p.E7_D14delFs

c.19_40del22

3 papers

NM_000445.5

p.M1_G3del0

c.1_9del9

1 paper

NM_000445.5

p.M1R

c.2T>G

1 paper

NM_000445.5

p.S39G

c.115A>G

1 paper

NM_201378.4

p.M1R

c.2T>G

6 papers

NM_201378.4

p.M1_G3del0

c.1_9del9

1 paper

NM_201378.4

p.L5L

c.13C>T

4 papers

NM_201378.4

p.M1_Q9del9

c.1_26del27

1 paper

NM_201378.4

p.D7_A14delFs

c.19_40del22

5 papers

NM_201378.4

p.E20*

c.58G>T