Varaico: Literature-Extracted Genetic Variants

PLS3

143 papers

RefSeq Summary

Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and ...

Pfam Domains

EF-hand_7aa 14–82UCSCEF-hand domain pair

CHaa 123–239UCSCCalponin homology (CH) domain

CHaa 267–379UCSCCalponin homology (CH) domain

CHaa 397–507UCSCCalponin homology (CH) domain

CHaa 518–628UCSCCalponin homology (CH) domain

Gene Aliases

HGNC Name

plastin 3

HGNC Alias Symbol

T-plastin

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005032.7

p.L558F

c.1674A>T

Surrounding Variants

1 paper

NM_005032.7

p.L558F

c.1674A>C

12 papers

NM_005032.7

p.S550fs

c.1648_1649fs

11 papers

NM_005032.7

p.I549delFs

c.1647delC

1 paper

NM_005032.7

p.L577fs

c.1729_1730fs

9 papers

NM_005032.7

p.L577insFs

c.1730dupT

3 papers

NM_005032.7

p.T578fs

c.1732_1733fs

1 paper

NM_005032.7

p.K545_D546Splc

c.1635+101G>C

1 paper

NM_005032.7

p.E534_K545del12

c.1600_1634del36

1 paper

NM_005032.7

p.D515fs

c.1543_1544fs

1 paper

NM_005032.7

p.D515delFs

c.1543delG

1 paper

NM_005032.7

p.N508D

c.1522A>G

1 paper

NM_005032.7

p.R504Splc

c.1512-1G>C