Varaico: Literature-Extracted Genetic Variants

VPS4B

68 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 8–74UCSCMIT (microtubule interacting and transport) domain

AAAaa 170–300UCSCATPase family associated with various cellular activities (AAA)

AAA_lid_3aa 323–366UCSCAAA+ lid domain

Vps4_Caa 381–441UCSCVps4 C terminal oligomerisation domain

Gene Aliases

HGNC Name

vacuolar protein sorting 4 homolog B

HGNC Previous Symbol

SKD1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

8 papers

NM_004869.4

p.G264Splc

c.790+46C>G

Surrounding Variants

1 paper

NM_004869.4

p.K255T

c.764A>C

1 paper

NM_004869.4

p.E247A

c.740A>C

19 papers

NM_004869.4

p.E235Q

c.703G>C

1 paper

NM_004869.4

p.F232Y

c.695T>A

1 paper

NM_004869.4

p.S229F

c.686C>T

1 paper

NM_004869.4

p.E211K

c.631G>A

1 paper

NM_004869.4

p.N192S

c.575A>G

2 papers

NM_004869.4

p.K180Q

c.538A>C

1 paper

NM_004869.4

p.T178A

c.532A>G

1 paper

NM_004869.4

p.L172I

c.514T>A

1 paper

NM_004869.4

p.V265G

c.794T>G

1 paper

NM_004869.4

p.R290*

c.868C>T