Varaico: Literature-Extracted Genetic Variants

TOR1AIP1

121 papers

RefSeq Summary

This gene encodes a type 2 integral membrane protein that binds A- and B-type lamins. The encoded protein localizes to the inner nuclear membrane and may be involved in maintaining the attachment of t...

Pfam Domains

LAP1_Naa 146–350UCSCLamina-associated polypeptide 1, N-terminal

LAP1_Caa 352–583UCSCLamina-associated polypeptide 1, AAA+ activator domain

Gene Aliases

HGNC Name

torsin 1A interacting protein 1

HGNC Alias Symbols

LAP1B; FLJ13142; LAP1; LAP1C

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015602.4

p.E159Splc

c.475+47G>C

Surrounding Variants

1 paper

NM_015602.4

p.E159Splc

c.475+48C>T

1 paper

NM_015602.4

p.E159Splc

c.475+53G>A

1 paper

NM_015602.4

p.E159Splc

c.475+30C>T

1 paper

NM_015602.4

p.R152L

c.455G>T

13 papers

NM_015602.4

p.M146T

c.437T>C

3 papers

NM_015602.4

p.S143F

c.428C>T

1 paper

NM_015602.4

p.P142S

c.424C>T

1 paper

NM_015602.4

p.L140R

c.419T>G

1 paper

NM_015602.4

p.T119T

c.357C>G

1 paper

NM_015602.4

p.R107W

c.319C>T

1 paper

NM_015602.4

p.S102N

c.305G>A

1 paper

NM_015602.4

p.R100G

c.298A>G