Varaico: Literature-Extracted Genetic Variants

Gene:RB1CC1
Variant:p.N1314K

RB1CC1

182 papers

RefSeq Summary

The protein encoded by this gene interacts with signaling pathways to coordinately regulate cell growth, cell proliferation, apoptosis, autophagy, and cell migration. This tumor suppressor also enhanc...

Pfam Domains

ATG11aa 1456–1589UCSCAutophagy-related protein 11

Gene Aliases

HGNC Name

RB1 inducible coiled-coil 1

HGNC Alias Symbols

KIAA0203; Cc1; DRAGOU14; FIP200; ATG17; PPP1R131

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_014781.5
p.N1314K
c.3942T>A
Surrounding Variants
3 papers
NM_014781.5
p.N1314K
c.3942T>G
1 paper
NM_014781.5
p.E1316K
c.3946G>A
1 paper
NM_014781.5
p.R1312I
c.3935G>T
1 paper
NM_014781.5
p.R1321*
c.3961C>T
1 paper
NM_014781.5
p.G1282R
c.3844G>C
1 paper
NM_014781.5
p.G1282R
c.3844G>A
2 papers
NM_014781.5
p.D1278Y
c.3832G>T
1 paper
NM_014781.5
p.R1363Q
c.4088G>A
2 papers
NM_014781.5
p.E1381A
c.4142A>C
1 paper
NM_014781.5
p.R1393C
c.4177C>T
1 paper
NM_014781.5
p.S1400L
c.4199C>T
1 paper
NM_014781.5
p.L1409F
c.4225C>T
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