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.L2633F

c.7897C>T

Surrounding Variants

1 paper

NM_201384.3

p.A2640T

c.7918G>A

1 paper

NM_201384.3

p.P2642A

c.7924C>G

1 paper

NM_201384.3

p.E2643G

c.7928A>G

1 paper

NM_201384.3

p.D2647Y

c.7939G>T

1 paper

NM_201384.3

p.D2647N

c.7939G>A

1 paper

NM_201379.3

p.Q2597*

c.7789C>T

1 paper

NM_201378.4

p.A2596_S2604del9

c.7786_7811del27

1 paper

NM_201384.3

p.G2648S

c.7942G>A

1 paper

NM_201384.3

p.R2650Q

c.7949G>A

1 paper

NM_201378.4

p.H2597Y

c.7789C>T

1 paper

NM_201384.3

p.A2655D

c.7964C>A

1 paper

NM_201380.4

p.L2746L

c.8236C>T