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.R298T

c.893G>C

Surrounding Variants

1 paper

NM_015602.4

p.R300K

c.899G>A

1 paper

NM_015602.4

p.R300M

c.899G>T

2 papers

NM_015602.4

p.Q293H

c.879A>C

2 papers

NM_015602.4

p.Q293H

c.879A>T

1 paper

NM_015602.4

p.T286fs

c.856_857fs

5 papers

NM_015602.4

p.S277*

c.830C>G

3 papers

NM_015602.4

p.P276R

c.827C>G

1 paper

NM_015602.4

p.P276T

c.826C>A

1 paper

NM_015602.4

p.E258K

c.772G>A

1 paper

NM_015602.4

p.Q255R

c.764A>G

1 paper

NM_001267578.2

p.Q315fs

c.943_944fs

1 paper

NM_001267578.2

p.Q315H

c.945G>C