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.R1952H

c.5855G>A

Surrounding Variants

1 paper

NM_201383.3

p.R1956delFs

c.5866delG

1 paper

NM_201384.3

p.R1952C

c.5854C>T

1 paper

NM_201384.3

p.R1950_R1952insFs

c.5849_5856dup8

2 papers

NM_201384.3

p.R1952delFs

c.5854_5855delCG

1 paper

NM_201378.4

p.S1939delFs

c.5815delT

2 papers

NM_201378.4

p.R1936C

c.5806C>T

1 paper

NM_201383.3

p.L1950_L1952insFs

c.5849_5856dup8

2 papers

NM_201383.3

p.L1952delFs

c.5854_5855delAG

1 paper

NM_201378.4

p.A1941delFs

c.5821_5822delGC

1 paper

NM_201384.3

p.E1956delFs

c.5866delC

1 paper

NM_201384.3

p.L1948L

c.5842C>T

1 paper

NM_201379.3

p.L1924L

c.5770C>T