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.A1555S

c.4663G>T

Surrounding Variants

3 papers

NM_201384.3

p.A1548_E1556insFs

c.4643_4667dup25

1 paper

NM_201384.3

p.R1553Q

c.4658G>A

1 paper

NM_201384.3

p.V1557M

c.4669G>A

2 papers

NM_201378.4

p.R1539W

c.4615C>T

NM_201384.3

p.R1553W

c.4657C>T

2 papers

NM_201383.3

p.Q1548_L1556insFs

c.4643_4667dup25

1 paper

NM_201380.4

p.E1695delFs

c.5083delC

2 papers

NM_201384.3

p.A1560V

c.4679C>T

1 paper

NM_201384.3

p.E1549G

c.4646A>G

1 paper

NM_000445.5

p.R1588P

c.4763G>C

1 paper

NM_201384.3

p.A1548T

c.4642G>A

1 paper

NM_201384.3

p.V1563L

c.4687G>T

1 paper

NM_201384.3

p.E1547K

c.4639G>A