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

6 papers

NM_015602.4

p.P43delFs

c.127delC

Surrounding Variants

5 papers

NM_015602.4

p.P43fs

c.127_128fs

2 papers

NM_015602.4

p.P43fs

c.127_128fs

1 paper

NM_015602.4

p.P43L

c.128C>T

1 paper

NM_015602.4

p.D41delFs

c.123delT

1 paper

NM_015602.4

p.D41H

c.121G>C

1 paper

NM_015602.4

p.G38R

c.112G>C

1 paper

NM_015602.4

p.P48L

c.143C>T

2 papers

NM_015602.4

p.S50*

c.149C>A

1 paper

NM_015602.4

p.Q35fs

c.103_104fs

1 paper

NM_015602.4

p.Q35fs

c.103_104fs

1 paper

NM_015602.4

p.R51P

c.152G>C

2 papers

NM_015602.4

p.A33insFs

c.98dupC