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.V100I

c.298G>A

Surrounding Variants

1 paper

NM_001082968.2

p.C81*

c.243T>A

1 paper

NM_001082968.2

p.L58_N59delFs

c.174_175delTG

1 paper

NM_001082968.2

p.R57_N59delFs

c.171_175del5

1 paper

NM_001082968.2

p.L58_N59insFs

c.174_175insT

1 paper

NM_001082968.2

p.Q122_A123Splc

c.367-3013G>A

1 paper

NM_001082968.2

p.G136S

c.406G>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.V149A

c.446T>C

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.A158T

c.472G>A