Varaico: Literature-Extracted Genetic Variants

Gene:FANCE
Variant:p.C477Y

FANCE

471 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

FA_FANCEaa 274–448UCSCFanconi Anaemia group E protein FANCE

Gene Aliases

HGNC Name

FA complementation group E

HGNC Previous Symbol

FACE

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021922.3
p.C477Y
c.1430G>A
Surrounding Variants
5 papers
NM_021922.3
p.K475R
c.1424A>G
1 paper
NM_021922.3
p.T484S
c.1450A>T
2 papers
NM_021922.3
p.T484I
c.1451C>T
1 paper
NM_021922.3
p.S470G
c.1408A>G
1 paper
NM_021922.3
p.A488S
c.1462G>T
2 papers
NM_021922.3
p.P466S
c.1396C>T
1 paper
NM_021922.3
p.Y489F
c.1466A>T
1 paper
NM_021922.3
p.K491fs
c.1471_1472fs
1 paper
NM_021922.3
p.Q461_V462Splc
c.1384-5T>A
3 papers
NM_021922.3
p.T495I
c.1484C>T
1 paper
NM_021922.3
p.V496A
c.1487T>C
1 paper
NM_021922.3
p.M497V
c.1489A>G
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