Varaico: Literature-Extracted Genetic Variants

PSAPL1

32 papers

RefSeq Summary

This gene encodes a protein that is related to the glycoprotein prosaposin. Based on sequence similarity between the encoded protein and prosaposin, it is predicted that the encoded protein is a prepr...

Pfam Domains

SapAaa 23–55UCSCSaposin A-type domain

SapB_1aa 62–99UCSCSaposin-like type B, region 1

SapB_1aa 292–329UCSCSaposin-like type B, region 1

SapB_2aa 334–366UCSCSaposin-like type B, region 2

SapB_2aa 436–469UCSCSaposin-like type B, region 2

SapAaa 479–511UCSCSaposin A-type domain

Gene Aliases

HGNC Name

prosaposin like 1

HGNC Previous Names

prosaposin-like 1; prosaposin like 1 (gene/pseudogene)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001085382.2

p.A41S

c.121G>T

Surrounding Variants

1 paper

NM_001085382.2

p.W33*

c.99G>A

1 paper

NM_001085382.2

p.W33*

c.98G>A

1 paper

NM_001085382.2

p.P57A

c.169C>G

1 paper

NM_001085382.2

p.S18N

c.53G>A

1 paper

NM_001085382.2

p.A82V

c.245C>T

1 paper

NM_001085382.2

p.I87F

c.259A>T

1 paper

NM_001085382.2

p.P99S

c.295C>T

1 paper

NM_001085382.2

p.W109R

c.325T>C

1 paper

NM_001085382.2

p.W109R

c.325T>A

1 paper

NM_001085382.2

p.L137F

c.409C>T

1 paper

NM_001085382.2

p.P142L

c.425C>T

1 paper

NM_001085382.2

p.P142P

c.426G>A