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

1–12 of 1792 variants

10 papers

NM_201384.3

p.M1_Q3del0

c.1_9del9

10 papers

NM_000445.5

p.R2000W

c.5998C>T

9 papers

NM_201384.3

p.M1_P9del9

c.1_26del27

9 papers

NM_201384.3

p.R16*

c.46C>T

9 papers

NM_000445.5

p.R2319*

c.6955C>T

8 papers

NM_201384.3

p.M448I

c.1344G>A

8 papers

NM_201384.3

p.Q1713*

c.5137C>T

7 papers

NM_000445.5

p.L318_L319ins0

c.954_956dupGCT

7 papers

NM_201384.3

p.E1695delFs

c.5083delC

7 papers

NM_201384.3

p.Q2538*

c.7612C>T

6 papers

NM_201378.4

p.M1_G3del0

c.1_9del9

6 papers

NM_000445.5

p.R323Q

c.968G>A