Varaico: Literature-Extracted Genetic Variants

Gene:MRC1
Variant:p.L129I

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.L129I
c.385C>A
Surrounding Variants
1 paper
NM_002438.4
p.Y130delFs
c.388_389delTA
1 paper
NM_002438.4
p.K131R
c.392A>G
1 paper
NM_002438.4
p.G132A
c.395G>C
1 paper
NM_002438.4
p.G134C
c.400G>T
1 paper
NM_002438.4
p.L135_W136del2
c.403_407del6
1 paper
NM_002438.4
p.Q123*
c.367C>T
1 paper
NM_002438.4
p.R122G
c.364A>G
1 paper
NM_002438.4
p.N121_R122ins1
c.363_364insACA
1 paper
NM_002438.4
p.I141insFs
c.421_422insT
1 paper
NM_002438.4
p.F116Y
c.347T>A
1 paper
NM_002438.4
p.G143E
c.428G>A
1 paper
NM_002438.4
p.T144_T145ins5
c.430_434ins15
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