Varaico: Literature-Extracted Genetic Variants

MRC1

822 papers

RefSeq Summary

The recognition of complex carbohydrate structures on glycoproteins is an important part of several biological processes, including cell-cell recognition, serum glycoprotein turnover, and neutralizati...

Pfam Domains

CysR_MRC2_Naa 21–150UCSCMRC2-like, N-terminal cysteine-rich domain

fn2aa 168–209UCSCFibronectin type II domain

Lectin_Caa 236–342UCSCLectin C-type domain

Lectin_Caa 380–488UCSCLectin C-type domain

Lectin_Caa 521–627UCSCLectin C-type domain

Lectin_Caa 669–779UCSCLectin C-type domain

Gene Aliases

HGNC Name

mannose receptor C-type 1

HGNC Previous Symbol

MRC1L1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002438.4

p.A48_C49insFs

c.144_145ins5

Surrounding Variants

2 papers

NM_002438.4

p.A48S

c.142G>T

1 paper

NM_002438.4

p.C49W

c.147C>G

1 paper

NM_002438.4

p.Q51insFs

c.153dupG

1 paper

NM_002438.4

p.T46_S55delFs

c.136_164del29

1 paper

NM_002438.4

p.D52H

c.154G>C

1 paper

NM_002438.4

p.D52G

c.155A>G

1 paper

NM_002438.4

p.Q45_T46delFs

c.135_136delAA

1 paper

NM_002438.4

p.A53T

c.157G>A

1 paper

NM_002438.4

p.A53V

c.158C>T

1 paper

NM_002438.4

p.V44I

c.130G>A

2 papers

NM_002438.4

p.E54K

c.160G>A

1 paper

NM_002438.4

p.E54A

c.161A>C