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.A2131S

c.6391G>T

Surrounding Variants

1 paper

NM_201381.3

p.Q2098*

c.6292C>T

1 paper

NM_201384.3

p.A2133A

c.6399G>A

1 paper

NM_201384.3

p.A2134T

c.6400G>A

1 paper

NM_201384.3

p.A2127T

c.6379G>A

1 paper

NM_201378.4

p.A2121fs

c.6361_6362fs

1 paper

NM_201378.4

p.A2121delFs

c.6361delC

1 paper

NM_201384.3

p.Q2126*

c.6376C>T

1 paper

NM_201384.3

p.K2137R

c.6410A>G

1 paper

NM_201384.3

p.E2123*

c.6367G>T

1 paper

NM_201384.3

p.R2139C

c.6415C>T

1 paper

NM_201384.3

p.A2121delFs

c.6361delC

1 paper

NM_000445.5

p.E2168*

c.6502G>T