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

1 paper

NM_001085382.2

p.A374T

c.1120G>A

Surrounding Variants

1 paper

NM_001085382.2

p.R373W

c.1117C>T

1 paper

NM_001085382.2

p.S384P

c.1150T>C

1 paper

NM_001085382.2

p.A389T

c.1165G>A

1 paper

NM_001085382.2

p.K353fs

c.1057_1058fs

1 paper

NM_001085382.2

p.S331F

c.992C>T

1 paper

NM_001085382.2

p.R417Q

c.1250G>A

1 paper

NM_001085382.2

p.G425C

c.1273G>T

1 paper

NM_001085382.2

p.G426C

c.1276G>T

1 paper

NM_001085382.2

p.L304V

c.910C>G

1 paper

NM_001085382.2

p.V296M

c.886G>A

1 paper

NM_001085382.2

p.D455H

c.1363G>C

1 paper

NM_001085382.2

p.A268S

c.802G>T