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.R199Q

c.596G>A

Surrounding Variants

1 paper

NM_001085382.2

p.L204V

c.610T>G

1 paper

NM_001085382.2

p.Q190H

c.570G>T

1 paper

NM_001085382.2

p.Q190H

c.570G>C

2 papers

NM_001085382.2

p.R176H

c.527G>A

1 paper

NM_001085382.2

p.F173delFs

c.518delA

1 paper

NM_001085382.2

p.F173fs

c.517_518fs

1 paper

NM_001085382.2

p.D236N

c.706G>A

2 papers

NM_001085382.2

p.P244fs

c.730_731fs

2 papers

NM_001085382.2

p.P244delFs

c.731delG

1 paper

NM_001085382.2

p.P142P

c.426G>A

1 paper

NM_001085382.2

p.P142L

c.425C>T

1 paper

NM_001085382.2

p.A259T

c.775G>A