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.S2821N

c.8462G>A

Surrounding Variants

1 paper

NM_201384.3

p.H2822Y

c.8464C>T

2 papers

NM_201384.3

p.V2819M

c.8455G>A

1 paper

NM_201384.3

p.Q2809_R2823delFs

c.8427_8469del43

1 paper

NM_201384.3

p.V2826M

c.8476G>A

1 paper

NM_201384.3

p.V2828M

c.8482G>A

1 paper

NM_201384.3

p.A2811T

c.8431G>A

1 paper

NM_201384.3

p.R2832C

c.8494C>T

1 paper

NM_201384.3

p.D2836Y

c.8506G>T

2 papers

NM_201384.3

p.D2836N

c.8506G>A

1 paper

NM_201384.3

p.L2806M

c.8416C>A

1 paper

NM_201384.3

p.E2838*

c.8512G>T

1 paper

NM_201384.3

p.V2842I

c.8524G>A