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.G1104S

c.3310G>A

Surrounding Variants

1 paper

NM_006039.5

p.T1099M

c.3296C>T

1 paper

NM_006039.5

p.T1111M

c.3332C>T

1 paper

NM_006039.5

p.R1092H

c.3275G>A

1 paper

NM_006039.5

p.S1084fs

c.3250_3251fs

1 paper

NM_006039.5

p.A1079A

c.3237A>G

1 paper

NM_006039.5

p.A1079V

c.3236C>T

1 paper

NM_006039.5

p.P1052T

c.3154C>A

1 paper

NM_006039.5

p.S1041*

c.3122C>A

1 paper

NM_006039.5

p.S1041W

c.3122C>G

1 paper

NM_006039.5

p.D1033N

c.3097G>A

1 paper

NM_006039.5

p.S1026R

c.3078C>A

1 paper

NM_006039.5

p.S1026R

c.3078C>G