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.E2542Q

c.7624G>C

Surrounding Variants

1 paper

NM_000445.5

p.Q2567*

c.7699C>T

4 papers

NM_201384.3

p.R2545W

c.7633C>T

7 papers

NM_201384.3

p.Q2538*

c.7612C>T

1 paper

NM_201384.3

p.R2536W

c.7606C>T

2 papers

NM_201380.4

p.Q2677_L2685del9

c.8029_8054del27

1 paper

NM_201384.3

p.Q2535*

c.7603C>T

2 papers

NM_201383.3

p.Q2538*

c.7612C>T

1 paper

NM_201380.4

p.Q2680_R2693del14

c.8038_8078del42

2 papers

NM_201378.4

p.Q2545*

c.7633C>T

2 papers

NM_201379.3

p.H2538Y

c.7612C>T

4 papers

NM_201384.3

p.Q2518*

c.7552C>T

NM_000445.5

p.Q2545*

c.7633C>T

1 paper

NM_201384.3

p.E2517K

c.7549G>A