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

2 papers

NM_006039.5

p.D1307E

c.3921T>A

Surrounding Variants

2 papers

NM_006039.5

p.D1307E

c.3921T>G

1 paper

NM_006039.5

p.N1311T

c.3932A>C

1 paper

NM_006039.5

p.A1301V

c.3902C>T

1 paper

NM_006039.5

p.N1346S

c.4037A>G

1 paper

NM_006039.5

p.R1297delins

c.3891delinsAGCG

1 paper

NM_006039.5

p.R1294C

c.3880C>T

1 paper

NM_006039.5

p.R1292Q

c.3875G>A

1 paper

NM_006039.5

p.A1383S

c.4147G>T

1 paper

NM_006039.5

p.R1274Q

c.3821G>A

1 paper

NM_006039.5

p.A1266T

c.3796G>A

1 paper

NM_006039.5

p.P1262T

c.3784C>A

1 paper

NM_006039.5

p.C1220Y

c.3659G>A