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

1–12 of 42 variants

3 papers

NM_002725.4

p.G33R

c.97G>A

3 papers

NM_002725.4

p.G33R

c.97G>C

3 papers

NM_002725.4

p.N334S

c.1001A>G

2 papers

NM_002725.4

p.M157V

c.469A>G

2 papers

NM_002725.4

p.M224V

c.670A>G

2 papers

NM_002725.4

p.I309V

c.925A>G

2 papers

NM_002725.4

p.N348H

c.1042A>C

1 paper

NM_002725.4

p.L9I

c.25C>A

1 paper

NM_002725.4

p.P10L

c.29C>T

1 paper

NM_002725.4

p.V17M

c.49G>A

1 paper

NM_002725.4

p.G33_R34insFs

c.99_100ins4

1 paper

NM_002725.4

p.R34fs

c.100_101fs