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.E1547K

c.4639G>A

Surrounding Variants

1 paper

NM_201384.3

p.A1545_E1546del1

c.4634_4636delCCG

1 paper

NM_201384.3

p.A1548T

c.4642G>A

2 papers

NM_201384.3

p.A1545V

c.4634C>T

1 paper

NM_201384.3

p.Q1544_A1545delFs

c.4632_4633delCC

1 paper

NM_201384.3

p.Q1544delFs

c.4631_4632delCT

1 paper

NM_201384.3

p.E1549G

c.4646A>G

1 paper

NM_000445.5

p.Q1571*

c.4711C>T

1 paper

NM_201378.4

p.L1521_L1529insFs

c.4562_4586dup25

1 paper

NM_201384.3

p.R1542R

c.4626G>T

2 papers

NM_201380.4

p.Q1673_R1679delFs

c.5018_5036del19

1 paper

NM_201380.4

p.L1678delFs

c.5032delG

3 papers

NM_000445.5

p.Q1563_E1567del5

c.4687_4700del15