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.L2368L

c.7102C>T

Surrounding Variants

1 paper

NM_201380.4

p.T2504P

c.7510A>C

1 paper

NM_201384.3

p.R2366R

c.7098G>T

1 paper

NM_201384.3

p.R2366R

c.7098G>C

1 paper

NM_201384.3

p.R2366W

c.7096C>T

2 papers

NM_201378.4

p.Q2351*

c.7051C>T

1 paper

NM_201384.3

p.R2372Q

c.7115G>A

1 paper

NM_201384.3

p.G2363R

c.7087G>C

2 papers

NM_201379.3

p.Q2351*

c.7051C>T

3 papers

NM_201384.3

p.R2374W

c.7120C>T

1 paper

NM_201384.3

p.R2374R

c.7122G>A

1 paper

NM_201384.3

p.Q2375H

c.7125G>C

3 papers

NM_000445.5

p.E2387*

c.7159G>T

NM_201384.3

p.E2360*

c.7078G>T