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_000445.5

p.A2182V

c.6545C>T

Surrounding Variants

1 paper

NM_000445.5

p.A2183fs

c.6547_6548fs

1 paper

NM_201384.3

p.L2157fs

c.6469_6470fs

1 paper

NM_201384.3

p.L2157L

c.6469C>T

1 paper

NM_201384.3

p.L2157L

c.6471G>C

1 paper

NM_201384.3

p.E2153K

c.6457G>A

1 paper

NM_201384.3

p.A2152V

c.6455C>T

1 paper

NM_201384.3

p.Q2151E

c.6451C>G

1 paper

NM_201384.3

p.A2162G

c.6485C>G

1 paper

NM_201384.3

p.A2147P

c.6439G>C

1 paper

NM_201384.3

p.A2165V

c.6494C>T

1 paper

NM_201384.3

p.E2145_A2146insA

c.6433_6437ins3

1 paper

NM_201384.3

p.M2167I

c.6501G>A