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.T239S

c.716C>G

Surrounding Variants

1 paper

NM_006610.4

p.T239S

c.715A>T

1 paper

NM_006610.4

p.T239A

c.715A>G

2 papers

NM_006610.4

p.D244N

c.730G>A

1 paper

NM_006610.4

p.D232N

c.694G>A

1 paper

NM_006610.4

p.K247_I248Splc

c.741+1G>T

1 paper

NM_006610.4

p.K247_I248Splc

c.741+1G>A

1 paper

NM_006610.4

p.I224S

c.671T>G

1 paper

NM_006610.4

p.V223V

c.669C>T

1 paper

NM_006610.4

p.P206S

c.616C>T

2 papers

NM_006610.4

p.R203W

c.607C>T

1 paper

NM_006610.4

p.C184S

c.551G>C

1 paper

NM_006610.4

p.D251D

c.753C>T