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

2 papers

NM_001199260.2

p.M438L

c.1312A>C

Surrounding Variants

2 papers

NM_001199260.2

p.M438L

c.1312A>T

1 paper

NM_001199260.2

p.H452P

c.1355A>C

1 paper

NM_001199260.2

p.T414M

c.1241C>T

1 paper

NM_001199260.2

p.R412G

c.1234A>G

1 paper

NM_001199260.2

p.E464A

c.1391A>C

1 paper

NM_001199260.2

p.H384Q

c.1152T>G

1 paper

NM_001199260.2

p.H384Q

c.1152T>A

1 paper

NM_001199260.2

p.E368A

c.1103A>C

1 paper

NM_001199260.2

p.V343delFs

c.1027delC

1 paper

NM_001199260.2

p.V343fs

c.1027_1028fs

1 paper

NM_001199260.2

p.T342M

c.1025C>T

1 paper

NM_001199260.2

p.Q338H

c.1014G>T