Varaico: Literature-Extracted Genetic Variants

Gene:MRC1
Variant:p.K99I

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.K99I
c.296A>T
Surrounding Variants
1 paper
NM_002438.4
p.W100S
c.299G>C
1 paper
NM_002438.4
p.E101*
c.301G>T
1 paper
NM_002438.4
p.F97I
c.289T>A
1 paper
NM_002438.4
p.F97delFs
c.289_290delTT
1 paper
NM_002438.4
p.N104delFs
c.310delA
1 paper
NM_002438.4
p.S95R
c.285T>A
1 paper
NM_002438.4
p.S95R
c.285T>G
1 paper
NM_002438.4
p.S95_E96insFs
c.285_286insA
1 paper
NM_002438.4
p.K103R
c.308A>G
1 paper
NM_002438.4
p.S95fs
c.283_284fs
1 paper
NM_002438.4
p.S95R
c.283A>C
1 paper
NM_002438.4
p.T106A
c.316A>G
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