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.G446E

c.1337G>A

Surrounding Variants

1 paper

NM_015602.4

p.D445N

c.1333G>A

1 paper

NM_015602.4

p.D448N

c.1342G>A

1 paper

NM_001267578.2

p.R444P

c.1331G>C

1 paper

NM_015602.4

p.R440C

c.1318C>T

1 paper

NM_015602.4

p.V457V

c.1371C>G

1 paper

NM_015602.4

p.D431N

c.1291G>A

1 paper

NM_015602.4

p.V477M

c.1429G>A

10 papers

NM_015602.4

p.E482A

c.1445A>C

1 paper

NM_001267578.2

p.E483V

c.1448A>T

1 paper

NM_015602.4

p.S483L

c.1448C>T

1 paper

NM_015602.4

p.Q406Q

c.1218G>A

4 papers

NM_015602.4

p.L394P

c.1181T>C