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.A1813A

c.5439C>T

Surrounding Variants

1 paper

NM_201384.3

p.R1815W

c.5443C>T

2 papers

NM_201380.4

p.R1952delFs

c.5854_5855delCG

1 paper

NM_201380.4

p.A1950_R1952insFs

c.5849_5856dup8

1 paper

NM_201384.3

p.A1810V

c.5429C>T

1 paper

NM_201384.3

p.Q1818*

c.5452C>T

1 paper

NM_201384.3

p.Q1818R

c.5453A>G

1 paper

NM_201380.4

p.L1956delFs

c.5866delG

1 paper

NM_201384.3

p.E1821K

c.5461G>A

1 paper

NM_201384.3

p.A1803del1

c.5407_5409delGGC

2 papers

NM_201384.3

p.A1804S

c.5410G>T

1 paper

NM_201381.3

p.E1770insFs

c.5309_5310insG

1 paper

NM_201380.4

p.E1939delFs

c.5815delC