Varaico: Literature-Extracted Genetic Variants

TOR1AIP2

35 papers

RefSeq Summary

One of the two protein isoforms encoded by this gene is a type II integral membrane protein found in the endoplasmic reticulum (ER). The encoded protein is a cofactor for the ATPase TorsinA, regulatin...

Pfam Domains

LAP1_Naa 1–234UCSCLamina-associated polypeptide 1, N-terminal

LAP1_Caa 237–469UCSCLamina-associated polypeptide 1, AAA+ activator domain

Gene Aliases

HGNC Name

torsin 1A interacting protein 2

HGNC Alias Symbols

LULL1; NET9; IFRG15

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001199260.2

p.S50C

c.148A>T

Surrounding Variants

1 paper

NM_001199260.2

p.L49F

c.145C>T

1 paper

NM_001199260.2

p.K51*

c.151A>T

1 paper

NM_001199260.2

p.G67D

c.200G>A

1 paper

NM_001199260.2

p.H102fs

c.304_305fs

1 paper

NM_001199260.2

p.H102_L103delFs

c.305_309del5

1 paper

NM_001199260.2

p.L132L

c.396A>G

1 paper

NM_001199260.2

p.P140S

c.418C>T

1 paper

NM_001199260.2

p.G146R

c.436G>C

1 paper

NM_001199260.2

p.G146R

c.436G>A

1 paper

NM_001199260.2

p.G146V

c.437G>T

1 paper

NM_001199260.2

p.Q151R

c.452A>G

1 paper

NM_001199260.2

p.Q151P

c.452A>C