Varaico: Literature-Extracted Genetic Variants

MASP2

311 papers

RefSeq Summary

This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is proteolytically processed to generate A and B chains that heterodimerize to form the mature prot...

Pfam Domains

CUBaa 24–134UCSCCUB domain

EGF_CAaa 138–180UCSCCalcium-binding EGF domain

CUBaa 184–293UCSCCUB domain

Sushiaa 300–361UCSCSushi repeat (SCR repeat)

Sushiaa 366–430UCSCSushi repeat (SCR repeat)

Trypsinaa 445–679UCSCTrypsin

Gene Aliases

HGNC Name

MBL associated serine protease 2

HGNC Previous Symbol

MASP1P1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006610.4

p.Y587F

c.1760A>T

Surrounding Variants

1 paper

NM_006610.4

p.D589N

c.1765G>A

1 paper

NM_006610.4

p.V593I

c.1777G>A

1 paper

NM_006610.4

p.Q577H

c.1731A>T

1 paper

NM_006610.4

p.Q577H

c.1731A>C

1 paper

NM_006610.4

p.T599I

c.1796C>T

1 paper

NM_006610.4

p.W573C

c.1719G>T

1 paper

NM_006610.4

p.W573C

c.1719G>C

1 paper

NM_006610.4

p.I567T

c.1700T>C

1 paper

NM_006610.4

p.R609M

c.1826G>T

1 paper

NM_006610.4

p.G620D

c.1859G>A

1 paper

NM_006610.4

p.I551T

c.1652T>C

1 paper

NM_006610.4

p.S628G

c.1882A>G