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.Q2493*

c.7477C>T

Surrounding Variants

1 paper

NM_201384.3

p.T2488T

c.7464G>T

1 paper

NM_201384.3

p.L2485L

c.7455G>C

1 paper

NM_000445.5

p.L2529L

c.7587G>A

2 papers

NM_201384.3

p.L2503L

c.7507C>T

1 paper

NM_201384.3

p.Q2481*

c.7441C>T

2 papers

NM_201378.4

p.Q2466*

c.7396C>T

1 paper

NM_201384.3

p.V2479M

c.7435G>A

1 paper

NM_000445.5

p.R2534C

c.7600C>T

1 paper

NM_201378.4

p.Q2463*

c.7387C>T

3 papers

NM_000445.5

p.Q2538*

c.7612C>T

1 paper

NM_201384.3

p.K2515E

c.7543A>G

1 paper

NM_201384.3

p.E2517K

c.7549G>A