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

5 papers

NM_201384.3

p.Q2201*

c.6601C>T

NM_000445.5

p.Q2228*

c.6682C>T

Surrounding Variants

1 paper

NM_201378.4

p.E2183_D2185del3

c.6547_6554del9

1 paper

NM_201384.3

p.D2206fs

c.6616_6617fs

2 papers

NM_201384.3

p.D2206insFs

c.6616dupG

NM_000445.5

p.D2233insFs

c.6697dupG

1 paper

NM_000445.5

p.D2233fs

c.6697_6698fs

3 papers

NM_201384.3

p.Q2183_Q2194delFs

c.6549_6582del34

2 papers

NM_201378.4

p.E2183_E2194delFs

c.6549_6582del34

2 papers

NM_201383.3

p.R2183_T2194delFs

c.6549_6582del34

1 paper

NM_201384.3

p.R2211L

c.6632G>T

1 paper

NM_201384.3

p.E2187G

c.6560A>G

1 paper

NM_201384.3

p.Q2183_E2185del3

c.6547_6554del9

2 papers

NM_201379.3

p.L2183_A2194delFs

c.6549_6582del34

1 paper

NM_201384.3

p.Q2183*

c.6547C>T