Varaico: Literature-Extracted Genetic Variants

TOM1L2

29 papers

RefSeq Summary

This gene belongs to a small gene family whose members have an N-terminal VHS domain followed by a GAT domain; domains which typically participate in vesicular trafficking. The canonical protein encod...

Pfam Domains

VHSaa 7–148UCSCVHS domain

GATaa 232–308UCSCGAT domain

Gene Aliases

HGNC Name

target of myb1 like 2 membrane trafficking protein

HGNC Previous Names

target of myb1 (chicken) homolog-like 1; target of myb1-like 2 (chicken)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001082968.2

p.V149A

c.446T>C

Surrounding Variants

1 paper

NM_001082968.2

p.E150K

c.448G>A

1 paper

NM_001082968.2

p.M153I

c.459G>A

1 paper

NM_001082968.2

p.Y141H

c.421T>C

1 paper

NM_001082968.2

p.Y141N

c.421T>A

1 paper

NM_001082968.2

p.A158T

c.472G>A

1 paper

NM_001082968.2

p.G136S

c.406G>A

1 paper

NM_001082968.2

p.P174_A175insT

c.520_524ins3

1 paper

NM_001082968.2

p.P174_A175del2

c.520_524del6

1 paper

NM_001082968.2

p.E171_A175del5

c.511_524del15

1 paper

NM_001082968.2

p.P195L

c.584C>T

1 paper

NM_001033551.3

p.A148A

c.444T>A

1 paper

NM_001033551.3

p.A152T

c.454G>A