Varaico: Literature-Extracted Genetic Variants

PRELP

45 papers

RefSeq Summary

The protein encoded by this gene is a leucine-rich repeat protein present in connective tissue extracellular matrix. This protein functions as a molecule anchoring basement membranes to the underlying...

Pfam Domains

LRR_8aa 102–162UCSCLeucine rich repeat

LRR_8aa 171–233UCSCLeucine rich repeat

LRR_8aa 242–303UCSCLeucine rich repeat

Gene Aliases

HGNC Name

proline and arginine rich end leucine rich repeat protein

HGNC Alias Symbols

SLRR2A; prolargin

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002725.4

p.A269T

c.805G>A

Surrounding Variants

1 paper

NM_002725.4

p.Y261*

c.783C>A

1 paper

NM_002725.4

p.Y261*

c.783C>G

1 paper

NM_002725.4

p.G260R

c.778G>A

1 paper

NM_002725.4

p.G260R

c.778G>C

1 paper

NM_002725.4

p.N259N

c.777C>T

1 paper

NM_002725.4

p.Y248*

c.744C>A

1 paper

NM_002725.4

p.Y248*

c.744C>G

2 papers

NM_002725.4

p.I309V

c.925A>G

2 papers

NM_002725.4

p.M224V

c.670A>G

1 paper

NM_002725.4

p.N319K

c.957C>A

1 paper

NM_002725.4

p.N319K

c.957C>G

1 paper

NM_002725.4

p.S208S

c.624C>T