Varaico: Literature-Extracted Genetic Variants

SELP

459 papers

RefSeq Summary

This gene encodes a 140 kDa protein that is stored in the alpha-granules of platelets and Weibel-Palade bodies of endothelial cells. This protein redistributes to the plasma membrane during platelet a...

Pfam Domains

Lectin_Caa 49–160UCSCLectin C-type domain

Sushiaa 200–257UCSCSushi repeat (SCR repeat)

Sushiaa 262–319UCSCSushi repeat (SCR repeat)

Sushiaa 324–381UCSCSushi repeat (SCR repeat)

Sushiaa 386–443UCSCSushi repeat (SCR repeat)

Sushiaa 448–505UCSCSushi repeat (SCR repeat)

Gene Aliases

HGNC Name

selectin P

HGNC Previous Symbol

GRMP

Papers

RefSeq ID

Protein change

DNA change

1–12 of 282 variants

27 papers

NM_003005.4

p.V640L

c.1918G>T

25 papers

NM_003005.4

p.V640L

c.1918G>C

18 papers

NM_003005.4

p.T756P

c.2266A>C

17 papers

NM_003005.4

p.S331N

c.992G>A

17 papers

NM_003005.4

p.D603N

c.1807G>A

7 papers

NM_003005.4

p.L33P

c.98T>C

7 papers

NM_003005.4

p.V209M

c.625G>A

7 papers

NM_003005.4

p.F606S

c.1817T>C

4 papers

NM_003005.4

p.W103*

c.308G>A

4 papers

NM_003005.4

p.G233V

c.698G>T

4 papers

NM_003005.4

p.W250*

c.749G>A

4 papers

NM_003005.4

p.W250*

c.750G>A