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.E1611K

c.4831G>A

Surrounding Variants

2 papers

NM_201383.3

p.A1614S

c.4840G>T

1 paper

NM_201383.3

p.A1614P

c.4840G>C

3 papers

NM_201384.3

p.A1614S

c.4840G>T

1 paper

NM_201384.3

p.A1614P

c.4840G>C

4 papers

NM_000445.5

p.Q1642*

c.4924C>T

NM_201384.3

p.Q1615*

c.4843C>T

1 paper

NM_201384.3

p.Q1616*

c.4846C>T

1 paper

NM_201380.4

p.Q1753insFs

c.5257_5258insG

1 paper

NM_201384.3

p.Q1616K

c.4846C>A

1 paper

NM_201380.4

p.Q1753insFs

c.5257dupC

6 papers

NM_201384.3

p.Q1617*

c.4849C>T

NM_000445.5

p.Q1644*

c.4930C>T

1 paper

NM_000445.5

p.A1631S

c.4891G>T

1 paper

NM_201384.3

p.A1620T

c.4858G>A