Varaico: Literature-Extracted Genetic Variants

PLS1

82 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_6aa 15–45UCSCEF-hand domain

EF-hand_1aa 55–83UCSCEF hand domain

CHaa 122–238UCSCCalponin homology (CH) domain

CHaa 266–377UCSCCalponin homology (CH) domain

CHaa 395–505UCSCCalponin homology (CH) domain

CHaa 516–626UCSCCalponin homology (CH) domain

Gene Aliases

HGNC Name

plastin 1

HGNC Previous Name

plastin 1 (I isoform)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001145319.2

p.M264I

c.792G>C

Surrounding Variants

1 paper

NM_001145319.2

p.M264I

c.792G>A

1 paper

NM_001145319.2

p.M264I

c.792G>T

3 papers

NM_001145319.2

p.E269K

c.805G>A

1 paper

NM_001145319.2

p.E259V

c.776A>T

1 paper

NM_001145319.2

p.E270A

c.809A>C

1 paper

NM_001145319.2

p.S289N

c.866G>A

1 paper

NM_001145319.2

p.K296_D297Splc

c.888+2T>C

1 paper

NM_001145319.2

p.S245P

c.733T>C

1 paper

NM_001145319.2

p.L238R

c.713T>G

3 papers

NM_001145319.2

p.V236A

c.707T>C

1 paper

NM_001145319.2

p.R299_A300del2

c.895_899del6

1 paper

NM_001145319.2

p.A300T

c.898G>A