Varaico: Literature-Extracted Genetic Variants

MRC2

109 papers

RefSeq Summary

This gene encodes a member of the mannose receptor family of proteins that contain a fibronectin type II domain and multiple C-type lectin-like domains. The encoded protein plays a role in extracellul...

Pfam Domains

CysR_MRC2_Naa 40–169UCSCMRC2-like, N-terminal cysteine-rich domain

fn2aa 187–228UCSCFibronectin type II domain

Lectin_Caa 255–361UCSCLectin C-type domain

Lectin_Caa 399–506UCSCLectin C-type domain

Lectin_Caa 538–646UCSCLectin C-type domain

Lectin_Caa 693–810UCSCLectin C-type domain

Gene Aliases

HGNC Name

mannose receptor C-type 2

HGNC Alias Symbols

KIAA0709; ENDO180; CLEC13E; CD280

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006039.5

p.R149H

c.446G>A

Surrounding Variants

1 paper

NM_006039.5

p.R154H

c.461G>A

2 papers

NM_006039.5

p.K143Q

c.427A>C

1 paper

NM_006039.5

p.R159H

c.476G>A

1 paper

NM_006039.5

p.A136V

c.407C>T

1 paper

NM_006039.5

p.G135G

c.405G>T

1 paper

NM_006039.5

p.S131S

c.393C>T

2 papers

NM_006039.5

p.H173Y

c.517C>T

1 paper

NM_006039.5

p.E174K

c.520G>A

1 paper

NM_006039.5

p.R124H

c.371G>A

1 paper

NM_006039.5

p.A116G

c.347C>G

1 paper

NM_006039.5

p.G108fs

c.322_323fs

1 paper

NM_006039.5

p.R82Q

c.245G>A