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

5 papers

NM_201384.3

p.Q3635*

c.10903C>T

NM_000445.5

p.Q3662*

c.10984C>T

Surrounding Variants

1 paper

NM_201384.3

p.I3632V

c.10894A>G

1 paper

NM_201384.3

p.Q3634_L3637delFs

c.10902_10911del10

1 paper

NM_201384.3

p.E3630_I3631insC

c.10888_10892ins3

1 paper

NM_201384.3

p.I3626_T3629delFs

c.10878_10887del10

1 paper

NM_201384.3

p.E3654K

c.10960G>A

1 paper

NM_201384.3

p.R3656Q

c.10967G>A

1 paper

NM_201384.3

p.L3660F

c.10978C>T

1 paper

NM_201384.3

p.D3607N

c.10819G>A

2 papers

NM_201384.3

p.E3668K

c.11002G>A

2 papers

NM_201384.3

p.A3679T

c.11035G>A

2 papers

NM_201380.4

p.S3818_C3821delFs

c.11453_11462del10

1 paper

NM_201384.3

p.Y3687delFs

c.11061delA