Varaico: Literature-Extracted Genetic Variants

Gene:FANCC
Variant:p.K552Q

FANCC

857 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

Fanconi_Caa 1–555UCSCFanconi anaemia group C protein

Gene Aliases

HGNC Name

FA complementation group C

HGNC Previous Symbol

FACC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000136.3
p.K552Q
c.1654A>C
Surrounding Variants
1 paper
NM_000136.3
p.L551P
c.1652T>C
1 paper
NM_000136.3
p.L554fs
c.1660_1661fs
1 paper
NM_000136.3
p.K552_E553insFs
c.1655_1659dup5
1 paper
NM_000136.3
p.L554R
c.1661T>G
64 papers
NM_000136.3
p.L554P
c.1661T>C
1 paper
NM_000136.3
p.E549K
c.1645G>A
3 papers
NM_000136.3
p.R555*
c.1663C>T
1 paper
NM_000136.3
p.R555Q
c.1664G>A
2 papers
NM_000136.3
p.R548Q
c.1643G>A
56 papers
NM_000136.3
p.R548*
c.1642C>T
2 papers
NM_000136.3
p.A547V
c.1640C>T
2 papers
NM_000136.3
p.Q557*
c.1669C>T
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