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

1–12 of 70 variants

4 papers

NM_001145319.2

p.S65T

c.194G>C

4 papers

NM_001145319.2

p.E100A

c.299A>C

3 papers

NM_001145319.2

p.V236A

c.707T>C

3 papers

NM_001145319.2

p.E269K

c.805G>A

2 papers

NM_001145319.2

p.F128S

c.383T>C

2 papers

NM_001145319.2

p.N327_E328Splc

c.981+1G>A

2 papers

NM_001145319.2

p.L345R

c.1034T>G

2 papers

NM_001145319.2

p.L363F

c.1087C>T

2 papers

NM_001145319.2

p.R402Q

c.1205G>A

2 papers

NM_001145319.2

p.G409E

c.1226G>A

1 paper

NM_001145319.2

p.M1I

c.3G>A

1 paper

NM_001145319.2

p.M1I

c.3G>C