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

2 papers

NM_015602.4

p.E217*

c.649G>T

Surrounding Variants

1 paper

NM_001267578.2

p.E217*

c.649G>T

1 paper

NM_015602.4

p.Q225insFs

c.673dupC

1 paper

NM_015602.4

p.Q225fs

c.673_674fs

1 paper

NM_015602.4

p.T233A

c.697A>G

1 paper

NM_001267578.2

p.D242delFs

c.724delG

1 paper

NM_001267578.2

p.D242fs

c.724_725fs

1 paper

NM_015602.4

p.Q255R

c.764A>G

1 paper

NM_015602.4

p.E258K

c.772G>A

1 paper

NM_015602.4

p.P276T

c.826C>A

3 papers

NM_015602.4

p.P276R

c.827C>G

5 papers

NM_015602.4

p.S277*

c.830C>G

1 paper

NM_015602.4

p.T286fs

c.856_857fs