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_000445.5

p.E3250fs

c.9748_9749fs

Surrounding Variants

1 paper

NM_000445.5

p.E3250insFs

c.9749_9750ins4

1 paper

NM_000445.5

p.L3251V

c.9751C>G

1 paper

NM_201384.3

p.K3215M

c.9644A>T

2 papers

NM_000445.5

p.K3263E

c.9787A>G

1 paper

NM_201384.3

p.S3208I

c.9623G>T

2 papers

NM_201384.3

p.D3202fs

c.9604_9605fs

NM_000445.5

p.D3229fs

c.9685_9686fs

1 paper

NM_201384.3

p.G3245A

c.9734G>C

1 paper

NM_201384.3

p.G3193S

c.9577G>A

2 papers

NM_201380.4

p.S3396_E3397delFs

c.10187_10190del4

1 paper

NM_201384.3

p.T3263A

c.9787A>G

1 paper

NM_201384.3

p.A3176V

c.9527C>T

1 paper

NM_201384.3

p.A3170S

c.9508G>T