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.R95Q

c.284G>A

Surrounding Variants

1 paper

NM_002725.4

p.V99_I100ins4

c.295_299ins12

1 paper

NM_002725.4

p.D90V

c.269A>T

1 paper

NM_002725.4

p.P101L

c.302C>T

1 paper

NM_002725.4

p.R103_Y106del4

c.307_317del12

1 paper

NM_002725.4

p.L133P

c.398T>C

1 paper

NM_002725.4

p.D142N

c.424G>A

1 paper

NM_002725.4

p.R37G

c.109A>G

1 paper

NM_002725.4

p.P36P

c.108C>G

1 paper

NM_002725.4

p.R35fs

c.103_104fs

1 paper

NM_002725.4

p.R35_P36delFs

c.103_106del4

1 paper

NM_002725.4

p.R34fs

c.100_101fs

2 papers

NM_002725.4

p.M157V

c.469A>G