Varaico: Literature-Extracted Genetic Variants

Gene:FANCF
Variant:p.Q316E

FANCF

335 papers

RefSeq Summary

The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANC...

Pfam Domains

FANCFaa 1–354UCSCFanconi anemia group F protein (FANCF)

Gene Aliases

HGNC Name

FA complementation group F

HGNC Previous Name

Fanconi anemia complementation group F

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022725.4
p.Q316E
c.946C>G
Surrounding Variants
1 paper
NM_022725.4
p.L314P
c.941T>C
1 paper
NM_022725.4
p.P318A
c.952C>G
1 paper
NM_022725.4
p.P319A
c.955C>G
1 paper
NM_022725.4
p.P320A
c.958C>G
10 papers
NM_022725.4
p.P320L
c.959C>T
1 paper
NM_022725.4
p.L321V
c.961C>G
2 papers
NM_022725.4
p.K324E
c.970A>G
1 paper
NM_022725.4
p.L307V
c.919T>G
1 paper
NM_022725.4
p.V325fs
c.973_974fs
1 paper
NM_022725.4
p.K324delFs
c.972delT
1 paper
NM_022725.4
p.E306*
c.916G>T
1 paper
NM_022725.4
p.T327S
c.979A>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."