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_201381.3

p.R1939delFs

c.5815delT

Surrounding Variants

2 papers

NM_000445.5

p.Q1999*

c.5995C>T

1 paper

NM_201384.3

p.Q1972E

c.5914C>G

12 papers

NM_201380.4

p.R2110W

c.6328C>T

NM_000445.5

p.R2000W

c.5998C>T

NM_201384.3

p.R1973W

c.5917C>T

2 papers

NM_201379.3

p.Q1952delFs

c.5854_5855delTG

1 paper

NM_201379.3

p.Q1950_Q1952insFs

c.5849_5856dup8

1 paper

NM_201378.4

p.Q1950_E1952insFs

c.5849_5856dup8

2 papers

NM_201378.4

p.E1952delFs

c.5854_5855delTC

1 paper

NM_201378.4

p.E1952fs

c.5854_5855fs

1 paper

NM_201384.3

p.A1976T

c.5926G>A

1 paper

NM_201384.3

p.A1976V

c.5927C>T

1 paper

NM_201384.3

p.E1966K

c.5896G>A

1 paper

NM_201384.3

p.A1977T

c.5929G>A