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_201383.3

p.R1563_V1567del5

c.4687_4700del15

Surrounding Variants

1 paper

NM_201384.3

p.V1563L

c.4687G>T

1 paper

NM_201384.3

p.A1566V

c.4697C>T

1 paper

NM_000445.5

p.R1588P

c.4763G>C

2 papers

NM_201380.4

p.V1702_L1704delFs

c.5105_5112del8

2 papers

NM_201384.3

p.A1560V

c.4679C>T

2 papers

NM_201384.3

p.V1563_L1567del5

c.4687_4700del15

1 paper

NM_201380.4

p.E1695delFs

c.5083delC

2 papers

NM_201378.4

p.Q1548_A1556insFs

c.4643_4667dup25

1 paper

NM_201384.3

p.Q1571*

c.4711C>T

1 paper

NM_201384.3

p.L1567_A1570del4

c.4699_4709del12

1 paper

NM_201384.3

p.V1557M

c.4669G>A

3 papers

NM_201384.3

p.A1548_E1556insFs

c.4643_4667dup25