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.L1592delFs

c.4776delC

Surrounding Variants

2 papers

NM_201384.3

p.E1593K

c.4777G>A

1 paper

NM_201384.3

p.L1592L

c.4774C>T

2 papers

NM_201379.3

p.F1563_T1567del5

c.4687_4700del15

2 papers

NM_201381.3

p.S1548_K1556insFs

c.4643_4667dup25

1 paper

NM_201384.3

p.K1588R

c.4763A>G

7 papers

NM_201384.3

p.E1587*

c.4759G>T

NM_000445.5

p.E1614*

c.4840G>T

1 paper

NM_000445.5

p.E1614Q

c.4840G>C

2 papers

NM_201381.3

p.S1563_E1567del5

c.4687_4700del15

1 paper

NM_201378.4

p.V1587L

c.4759G>T

1 paper

NM_000445.5

p.A1631S

c.4891G>T

1 paper

NM_201384.3

p.R1582C

c.4744C>T

1 paper

NM_201384.3

p.R1582G

c.4744C>G