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

1–12 of 102 variants

13 papers

NM_015602.4

p.M146T

c.437T>C

11 papers

NM_015602.4

p.E62delFs

c.186delG

10 papers

NM_015602.4

p.E482A

c.1445A>C

8 papers

NM_015602.4

p.V185Splc

c.554-1G>A

6 papers

NM_015602.4

p.P43delFs

c.127delC

5 papers

NM_015602.4

p.P43fs

c.127_128fs

5 papers

NM_015602.4

p.S277*

c.830C>G

5 papers

NM_015602.4

p.R321*

c.961C>T

4 papers

NM_015602.4

p.E62fs

c.184_185fs

4 papers

NM_015602.4

p.L394P

c.1181T>C

3 papers

NM_015602.4

p.P21insFs

c.63dupC

3 papers

NM_015602.4

p.S143F

c.428C>T