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.T3554fs

c.10660_10661fs

Surrounding Variants

1 paper

NM_201384.3

p.T3554delFs

c.10660delT

1 paper

NM_201384.3

p.T3559S

c.10675A>T

1 paper

NM_201384.3

p.T3559S

c.10676C>G

1 paper

NM_201384.3

p.K3544delFs

c.10631_10632delTT

1 paper

NM_201378.4

p.L3527L

c.10579C>T

3 papers

NM_201384.3

p.L3527L

c.10579C>T

2 papers

NM_201380.4

p.Q3662*

c.10984C>T

1 paper

NM_201381.3

p.H3486Y

c.10456C>T

1 paper

NM_201384.3

p.T3517M

c.10550C>T

1 paper

NM_201384.3

p.N3516D

c.10546A>G

1 paper

NM_201384.3

p.D3607N

c.10819G>A

5 papers

NM_201384.3

p.R3500C

c.10498C>T

NM_000445.5

p.R3527C

c.10579C>T

NM_201380.4

p.R3637C

c.10909C>T

NM_201378.4

p.R3486C

c.10456C>T