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

7 papers

NM_006610.4

p.G54D

c.161G>A

Surrounding Variants

1 paper

NM_006610.4

p.P52_P53insFs

c.156_159dup4

1 paper

NM_006610.4

p.G54S

c.160G>A

1 paper

NM_006610.4

p.P53fs

c.157_158fs

1 paper

NM_006610.4

p.R56C

c.166C>T

1 paper

NM_006610.4

p.R56L

c.167G>T

1 paper

NM_006610.4

p.R58P

c.173G>C

1 paper

NM_006610.4

p.R58R

c.174C>A

2 papers

NM_006610.4

p.T48T

c.144C>A

1 paper

NM_006610.4

p.T62N

c.185C>A

2 papers

NM_006610.4

p.R45W

c.133C>T

1 paper

NM_006610.4

p.Q43Q

c.129G>A

1 paper

NM_006610.4

p.A40V

c.119C>T