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.S419Splc

c.1256+33C>G

Surrounding Variants

2 papers

NM_001145319.2

p.G409E

c.1226G>A

1 paper

NM_001145319.2

p.S407F

c.1220C>T

2 papers

NM_001145319.2

p.R402Q

c.1205G>A

1 paper

NM_001145319.2

p.E392G

c.1175A>G

1 paper

NM_001145319.2

p.K380K

c.1140G>A

1 paper

NM_001145319.2

p.P376S

c.1126C>T

1 paper

NM_001145319.2

p.N370S

c.1109A>G

2 papers

NM_001145319.2

p.L363F

c.1087C>T

1 paper

NM_001145319.2

p.V356M

c.1066G>A

1 paper

NM_001145319.2

p.T352I

c.1055C>T

2 papers

NM_001145319.2

p.L345R

c.1034T>G

1 paper

NM_001145319.2

p.R334L

c.1001G>T