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.G260fs

c.778_779fs

Surrounding Variants

1 paper

NM_006610.4

p.G260E

c.779G>A

1 paper

NM_006610.4

p.C259insFs

c.777dupT

1 paper

NM_006610.4

p.F258S

c.773T>C

1 paper

NM_006610.4

p.L263S

c.788T>C

1 paper

NM_006610.4

p.D251D

c.753C>T

1 paper

NM_006610.4

p.S271R

c.811A>C

1 paper

NM_006610.4

p.S271R

c.813C>G

1 paper

NM_006610.4

p.S271R

c.813C>A

1 paper

NM_006610.4

p.T273M

c.818C>T

1 paper

NM_006610.4

p.H292N

c.874C>A

7 papers

NM_006610.4

p.T294M

c.881C>T

1 paper

NM_006610.4

p.K247_I248Splc

c.741+1G>T