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.V3010I

c.9028G>A

Surrounding Variants

3 papers

NM_201384.3

p.V3010fs

c.9028_9029fs

NM_000445.5

p.V3037fs

c.9109_9110fs

1 paper

NM_201384.3

p.A3011S

c.9031G>T

1 paper

NM_201384.3

p.A3011T

c.9031G>A

1 paper

NM_201384.3

p.D3009N

c.9025G>A

1 paper

NM_201384.3

p.R3008Q

c.9023G>A

1 paper

NM_201384.3

p.A3011A

c.9033C>A

2 papers

NM_201384.3

p.E3012K

c.9034G>A

4 papers

NM_201384.3

p.V3010_T3015delFs

c.9028_9044del17

NM_000445.5

p.V3037_T3042delFs

c.9109_9125del17

1 paper

NM_201384.3

p.V3016M

c.9046G>A

2 papers

NM_201380.4

p.R3154W

c.9460C>T

NM_201384.3

p.R3017W

c.9049C>T

1 paper

NM_201380.4

p.V3153delFs

c.9458_9459delCA

4 papers

NM_201384.3

p.R3002*

c.9004C>T

NM_000445.5

p.R3029*

c.9085C>T