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

2 papers

NM_002725.4

p.N348H

c.1042A>C

Surrounding Variants

1 paper

NM_002725.4

p.N360K

c.1080C>A

1 paper

NM_002725.4

p.N360K

c.1080C>G

3 papers

NM_002725.4

p.N334S

c.1001A>G

1 paper

NM_002725.4

p.N327N

c.981C>T

1 paper

NM_002725.4

p.V380V

c.1140G>A

1 paper

NM_002725.4

p.V381I

c.1141G>A

1 paper

NM_002725.4

p.N319K

c.957C>A

1 paper

NM_002725.4

p.N319K

c.957C>G

2 papers

NM_002725.4

p.I309V

c.925A>G

1 paper

NM_002725.4

p.A269T

c.805G>A

1 paper

NM_002725.4

p.Y261*

c.783C>A

1 paper

NM_002725.4

p.Y261*

c.783C>G