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_000445.5

p.T2890M

c.8669C>T

Surrounding Variants

3 papers

NM_201384.3

p.T2863S

c.8587A>T

NM_000445.5

p.T2890S

c.8668A>T

1 paper

NM_201384.3

p.N2861N

c.8583C>T

1 paper

NM_201384.3

p.E2860*

c.8578G>T

1 paper

NM_000445.5

p.R2897C

c.8689C>T

1 paper

NM_201384.3

p.F2853F

c.8559C>T

1 paper

NM_000445.5

p.D2901N

c.8701G>A

1 paper

NM_201384.3

p.G2852S

c.8554G>A

1 paper

NM_201384.3

p.P2875P

c.8625C>T

1 paper

NM_201378.4

p.T2863S

c.8587A>T

1 paper

NM_201384.3

p.L2881F

c.8641C>T

1 paper

NM_201384.3

p.L2881L

c.8643T>C

1 paper

NM_201384.3

p.P2883S

c.8647C>T