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

1–12 of 64 variants

1 paper

NM_001082968.2

p.F3_G6del4

c.7_17del12

1 paper

NM_001082968.2

p.L4_F9delFs

c.10_25del16

1 paper

NM_001082968.2

p.K19E

c.55A>G

1 paper

NM_001082968.2

p.K19M

c.56A>T

1 paper

NM_001082968.2

p.N33T

c.98A>C

1 paper

NM_001082968.2

p.L58_N59insFs

c.174_175insT

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.C81*

c.243T>A

1 paper

NM_001082968.2

p.V100I

c.298G>A

1 paper

NM_001082968.2

p.Q122_A123Splc

c.367-3013G>A

1 paper

NM_001082968.2

p.G136S

c.406G>A