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

2 papers

NM_201384.3

p.L14P

c.41T>C

Surrounding Variants

1 paper

NM_201384.3

p.R7_L14delFs

c.19_40del22

1 paper

NM_201384.3

p.G13V

c.38G>T

3 papers

NM_201384.3

p.G13D

c.38G>A

1 paper

NM_201384.3

p.G15G

c.45C>G

1 paper

NM_201384.3

p.E12delFs

c.35delT

9 papers

NM_201384.3

p.R16*

c.46C>T

1 paper

NM_201384.3

p.R16insFs

c.46_47insC

1 paper

NM_201384.3

p.P9_P11insFs

c.26_33dup8

1 paper

NM_201384.3

p.E12fs

c.34_35fs

1 paper

NM_201384.3

p.K17*

c.49A>T

1 paper

NM_201384.3

p.Q10delFs

c.28_29delTG

1 paper

NM_201384.3

p.Q10insFs

c.29_30insC