Varaico: Literature-Extracted Genetic Variants

VTI1A

33 papers

RefSeq Summary

The protein encoded by this gene is a member of the family of soluble N-ethylmaleimide-sensitive fusion protein-attachment protein receptors (SNAREs) that function in intracellular trafficking. This f...

Pfam Domains

V-SNAREaa 1–92UCSCVesicle transport v-SNARE protein N-terminus

V-SNARE_Caa 123–188UCSCSnare region anchored in the vesicle membrane C-terminus

Gene Aliases

HGNC Name

vesicle transport through interaction with t-SNAREs 1A

HGNC Alias Symbols

MVti1; Vti1-rp2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 34 variants

2 papers

NM_145206.4

p.E85K

c.253G>A

2 papers

NM_145206.4

p.L104P

c.311T>C

1 paper

NM_145206.4

p.M1insFs

c.2dupT

1 paper

NM_145206.4

p.M1_S2insFs

c.3_4insA

1 paper

NM_145206.4

p.K22R

c.65A>G

1 paper

NM_145206.4

p.D32Splc

c.94+4A>C

1 paper

NM_145206.4

p.D32Splc

c.94+4119C>A

1 paper

NM_145206.4

p.N40D

c.118A>G

1 paper

NM_145206.4

p.V41E

c.122T>A

1 paper

NM_145206.4

p.A48V

c.143C>T

1 paper

NM_145206.4

p.L51_L52Splc

c.153+634A>G

1 paper

NM_145206.4

p.E53*

c.157G>T