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.D1173V

c.3518A>T

Surrounding Variants

3 papers

NM_020821.3

p.T1172I

c.3515C>T

1 paper

NM_020821.3

p.L1161F

c.3483G>C

1 paper

NM_020821.3

p.C1187S

c.3559T>A

1 paper

NM_020821.3

p.C1187S

c.3560G>C

1 paper

NM_020821.3

p.L1193R

c.3578T>G

1 paper

NM_020821.3

p.M1198L

c.3592A>C

1 paper

NM_020821.3

p.L1201_N1202Splc

c.3603+1G>A

1 paper

NM_020821.3

p.K1145delFs

c.3433_3434delTT

7 papers

NM_020821.3

p.I1132V

c.3394A>G

1 paper

NM_020821.3

p.S1114_S1115del2

c.3340_3344del6

1 paper

NM_020821.3

p.L1201_N1202Splc

c.3604-44C>T

1 paper

NM_020821.3

p.N1205Y

c.3613A>T