Varaico: Literature-Extracted Genetic Variants

VPS13B

512 papers

RefSeq Summary

This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the fun...

Pfam Domains

VPS13_Naa 1–1549UCSCVPS13-like family N-terminal region

VPS13_Maa 1557–2572UCSCVPS13-like family middle region

VPS13_VABaa 2628–2727UCSCVacuolar-sorting associated protein 13, adaptor binding domain

Gene Aliases

HGNC Name

vacuolar protein sorting 13 homolog B

HGNC Previous Symbols

CHS1; COH1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_152564.5

p.I1121M

c.3363A>G

Surrounding Variants

1 paper

NM_152564.5

p.C1117F

c.3350G>T

2 papers

NM_152564.5

p.C1117fs

c.3349_3350fs

1 paper

NM_152564.5

p.G1127W

c.3379G>T

23 papers

NM_152564.5

p.L1116_C1117delFs

c.3348_3349delCT

1 paper

NM_152564.5

p.K1129E

c.3385A>G

6 papers

NM_152564.5

p.K1129R

c.3386A>G

1 paper

NM_152564.5

p.L1114_V1115del2

c.3340_3344del6

1 paper

NM_152564.5

p.P1111R

c.3332C>G

1 paper

NM_152564.5

p.P1133T

c.3397C>A

1 paper

NM_152564.5

p.P1133S

c.3397C>T

1 paper

NM_152564.5

p.Q1135Q

c.3405G>A

1 paper

NM_152564.5

p.F1139V

c.3415T>G