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.E1632A

c.4895A>C

Surrounding Variants

1 paper

NM_201378.4

p.L1617L

c.4849C>T

1 paper

NM_201380.4

p.R1770insFs

c.5309_5310insG

1 paper

NM_201384.3

p.Q1635*

c.4903C>T

1 paper

NM_201378.4

p.R1615W

c.4843C>T

2 papers

NM_201378.4

p.E1614*

c.4840G>T

1 paper

NM_201378.4

p.E1614Q

c.4840G>C

1 paper

NM_201384.3

p.L1642L

c.4924C>T

1 paper

NM_201384.3

p.E1621G

c.4862A>G

1 paper

NM_201384.3

p.E1621A

c.4862A>C

3 papers

NM_201384.3

p.L1644L

c.4930C>T

1 paper

NM_201384.3

p.A1620T

c.4858G>A

3 papers

NM_000445.5

p.L1673fs

c.5017_5018fs

NM_201384.3

p.L1646fs

c.4936_4937fs