Varaico: Literature-Extracted Genetic Variants

VPS4A

69 papers

RefSeq Summary

The protein encoded by this gene is a member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog of the yeast Vps4 protein. In humans, two paralogs of t...

Pfam Domains

MITaa 6–72UCSCMIT (microtubule interacting and transport) domain

AAAaa 163–293UCSCATPase family associated with various cellular activities (AAA)

AAA_lid_3aa 316–358UCSCAAA+ lid domain

Vps4_Caa 374–434UCSCVps4 C terminal oligomerisation domain

Gene Aliases

HGNC Name

vacuolar protein sorting 4 homolog A

HGNC Alias Symbols

VPS4-1; FLJ22197; SKD2; SKD1; SKD1A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_013245.3

p.E100K

c.298G>A

Surrounding Variants

1 paper

NM_013245.3

p.P168S

c.502C>T

5 papers

NM_013245.3

p.K173Q

c.517A>C

2 papers

NM_013245.3

p.V180M

c.538G>A

2 papers

NM_013245.3

p.S193del1

c.577_578delTCC

1 paper

NM_013245.3

p.L202L

c.606G>A

2 papers

NM_013245.3

p.G203E

c.608G>A

1 paper

NM_013245.3

p.G203A

c.608G>C

2 papers

NM_013245.3

p.E206K

c.616G>A

1 paper

NM_013245.3

p.E206G

c.617A>G

20 papers

NM_013245.3

p.E228Q

c.682G>C

1 paper

NM_013245.3

p.V229M

c.685G>A

1 paper

NM_013245.3

p.C233*

c.699C>A