Varaico: Literature-Extracted Genetic Variants

Gene:RMC1
Variant:p.L483L

RMC1

36 papers

RefSeq Summary

This gene encodes a colon cancer associated protein. [provided by RefSeq, Jan 2013].

Pfam Domains

RMC1_Naa 26–128UCSCRegulator of MON1-CCZ1 complex, N-terminal
RMC1_Caa 335–584UCSCRegulator of MON1-CCZ1 complex, C-terminal

Gene Aliases

HGNC Name

regulator of MON1-CCZ1

HGNC Previous Symbols

C18orf8; WDR98

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_013326.5
p.L483L
c.1449G>C
Surrounding Variants
1 paper
NM_013326.5
p.P448S
c.1342C>T
1 paper
NM_013326.5
p.S530S
c.1590C>A
1 paper
NM_013326.5
p.E435K
c.1303G>A
1 paper
NM_013326.5
p.Q549*
c.1645C>T
2 papers
NM_013326.5
p.I565T
c.1694T>C
1 paper
NM_013326.5
p.R622S
c.1864C>A
1 paper
NM_013326.5
p.A431V
c.1292C>T
1 paper
NM_013326.5
p.A410T
c.1228G>A
1 paper
NM_013326.5
p.F379L
c.1137T>A
1 paper
NM_013326.5
p.F379L
c.1137T>G
1 paper
NM_013326.5
p.F379L
c.1135T>C
1 paper
NM_013326.5
p.A351_S352delFs
c.1051_1054del4
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."