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

7 papers

NM_201384.3

p.R2324*

c.6970C>T

NM_000445.5

p.R2351*

c.7051C>T

Surrounding Variants

1 paper

NM_201384.3

p.L2331L

c.6991C>T

4 papers

NM_201378.4

p.Q2319*

c.6955C>T

1 paper

NM_201384.3

p.E2337Q

c.7009G>C

1 paper

NM_201378.4

p.L2324F

c.6970C>T

1 paper

NM_201384.3

p.A2308T

c.6922G>A

2 papers

NM_201384.3

p.Q2340*

c.7018C>T

NM_000445.5

p.Q2367*

c.7099C>T

1 paper

NM_201384.3

p.Q2342R

c.7025A>G

1 paper

NM_000445.5

p.Q2331*

c.6991C>T

1 paper

NM_201384.3

p.A2302V

c.6905C>T

1 paper

NM_201384.3

p.A2302T

c.6904G>A

6 papers

NM_201384.3

p.Q2347*

c.7039C>T

NM_000445.5

p.Q2374*

c.7120C>T

NM_201383.3

p.Q2351*

c.7051C>T

1 paper

NM_201384.3

p.Q2347P

c.7040A>C