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_001267578.2

p.Q315H

c.945G>T

Surrounding Variants

1 paper

NM_001267578.2

p.Q315H

c.945G>C

1 paper

NM_001267578.2

p.Q315fs

c.943_944fs

1 paper

NM_015602.4

p.S317S

c.951A>G

5 papers

NM_015602.4

p.R321*

c.961C>T

1 paper

NM_001267578.2

p.Q323Splc

c.967+1G>A

1 paper

NM_015602.4

p.F355S

c.1064T>C

1 paper

NM_015602.4

p.T363P

c.1087A>C

2 papers

NM_015602.4

p.E384K

c.1150G>A

1 paper

NM_015602.4

p.S390G

c.1168A>G

1 paper

NM_001267578.2

p.F394S

c.1181T>C

4 papers

NM_015602.4

p.L394P

c.1181T>C

1 paper

NM_015602.4

p.Q406Q

c.1218G>A