Varaico: Literature-Extracted Genetic Variants

PSAP

5,363 papers

RefSeq Summary

This gene encodes a highly conserved preproprotein that is proteolytically processed to generate four main cleavage products including saposins A, B, C, and D. Each domain of the precursor protein is ...

Pfam Domains

SapAaa 22–54UCSCSaposin A-type domain

SapB_1aa 61–98UCSCSaposin-like type B, region 1

SapB_2aa 104–138UCSCSaposin-like type B, region 2

SapB_2aa 239–271UCSCSaposin-like type B, region 2

SapB_1aa 313–350UCSCSaposin-like type B, region 1

SapB_2aa 355–388UCSCSaposin-like type B, region 2

Gene Aliases

HGNC Name

prosaposin

HGNC Previous Symbol

GLBA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002778.4

p.R27R

c.81G>A

Surrounding Variants

1 paper

NM_002778.4

p.R27S

c.81G>C

4 papers

NM_002778.4

p.R27K

c.80G>A

1 paper

NM_002778.4

p.G28A

c.83G>C

1 paper

NM_002778.4

p.T26_R27delins

c.78_79delinsAT

1 paper

NM_002778.4

p.G28G

c.84C>T

1 paper

NM_002778.4

p.T26T

c.78C>T

2 papers

NM_002778.4

p.T26_R27insFs

c.78_79insT

1 paper

NM_002778.4

p.G28_S29insFs

c.84_85insGG

1 paper

NM_002778.4

p.G28G

c.84C>A

2 papers

NM_002778.4

p.K23_G28delFs

c.67_83del17

1 paper

NM_002778.4

p.S29A

c.85T>G

1 paper

NM_002778.4

p.S29T

c.85T>A