Varaico: Literature-Extracted Genetic Variants

VPS13C

15q22.2 (UCSC)OMIM PanelApp GTEx

300 papers

Pfam Domains

VPS13_Naa 2–1598UCSCVPS13-like family N-terminal region

VPS13_Maa 1611–2407UCSCVPS13-like family middle region

VPS13_VABaa 2472–3018UCSCVacuolar-sorting associated protein 13, adaptor binding domain

VPS13_Caa 3594–3716UCSCIntermembrane lipid transfer protein VPS13, C-terminal

Gene Aliases

HGNC Name

vacuolar protein sorting 13 homolog C

HGNC Alias Symbols

FLJ20136; FLJ10381; KIAA1421; BLTP5C; PARK23

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020821.3

p.K1623_I1624insFs

c.4869_4870insG

Surrounding Variants

1 paper

NM_020821.3

p.I1619T

c.4856T>C

2 papers

NM_020821.3

p.N1609S

c.4826A>G

1 paper

NM_020821.3

p.Q1593L

c.4778A>T

3 papers

NM_020821.3

p.Q1593delFs

c.4777delG

4 papers

NM_020821.3

p.Q1593fs

c.4777_4778fs

1 paper

NM_020821.3

p.S1592Y

c.4775C>A

1 paper

NM_020821.3

p.V1587Splc

c.4760-7T>A

1 paper

NM_020821.3

p.G1626Splc

c.4877-2A>C

1 paper

NM_017684.5

p.K1593delFs

c.4777delT

1 paper

NM_020821.3

p.D1639H

c.4915G>C

1 paper

NM_020821.3

p.I1664V

c.4990A>G

1 paper

NM_020821.3

p.Y1686D

c.5056T>G