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.P101L

c.302C>T

Surrounding Variants

2 papers

NM_006610.4

p.G102S

c.304G>A

1 paper

NM_006610.4

p.A100T

c.298G>A

1 paper

NM_006610.4

p.G102G

c.306C>G

14 papers

NM_006610.4

p.R99Q

c.296G>A

1 paper

NM_006610.4

p.D96N

c.286G>A

1 paper

NM_006610.4

p.E93Q

c.277G>C

1 paper

NM_006610.4

p.S111T

c.331T>A

1 paper

NM_006610.4

p.S111F

c.332C>T

1 paper

NM_006610.4

p.S111Y

c.332C>A

1 paper

NM_006610.4

p.T88M

c.263C>T

9 papers

NM_006610.4

p.R118C

c.352C>T

1 paper

NM_006610.4

p.D120N

c.358G>A