Varaico: Literature-Extracted Genetic Variants

Gene:FYCO1
Variant:p.Q1071R

FYCO1

199 papers

RefSeq Summary

The gene encodes a Rab7 adapter protein that is implicated in the microtubule transport of autophagosomes. The encoded protein contains a RUN domain, a FYVE-type zinc finger domain, and Golgi dynamics...

Pfam Domains

RUNaa 43–168UCSCRUN domain
FYVEaa 1169–1232UCSCFYVE zinc finger

Gene Aliases

HGNC Name

FYVE and coiled-coil domain autophagy adaptor 1

HGNC Alias Symbols

FLJ13335; ZFYVE7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024513.4
p.Q1071R
c.3212A>G
Surrounding Variants
1 paper
NM_024513.4
p.E1069_C1070delFs
c.3207_3208delAC
2 papers
NM_024513.4
p.A1072V
c.3215C>T
4 papers
NM_024513.4
p.H1066delFs
c.3196delG
2 papers
NM_024513.4
p.D1078E
c.3234C>G
2 papers
NM_024513.4
p.D1078E
c.3234C>A
1 paper
NM_024513.4
p.T1063S
c.3188C>G
1 paper
NM_024513.4
p.T1063S
c.3187A>T
1 paper
NM_024513.4
p.C1062S
c.3185G>C
1 paper
NM_024513.4
p.C1062S
c.3184T>A
3 papers
NM_024513.4
p.A1051fs
c.3151_3152fs
4 papers
NM_024513.4
p.K1050_A1051Splc
c.3151-2A>C
7 papers
NM_024513.4
p.K1050_A1051Splc
c.3150+1G>T
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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."