Varaico: Literature-Extracted Genetic Variants

FAAP20

1p36.33 (UCSC)OMIM GTEx

55 papers

Pfam Domains

FANCA_interactaa 35–139UCSCFAAP20 FANCA interaction domain

FANCA_interactaa 35–139UCSCFAAP20 FANCA interaction domain

FANCA_interactaa 35–139UCSCFAAP20 FANCA interaction domain

UBZ_FAAP20aa 144–178UCSCUbiquitin-binding zinc-finger

UBZ_FAAP20aa 144–178UCSCUbiquitin-binding zinc-finger

UBZ_FAAP20aa 144–178UCSCUbiquitin-binding zinc-finger

Gene Aliases

HGNC Name

FA core complex associated protein 20

HGNC Previous Symbol

C1orf86

Papers

RefSeq ID

Protein change

DNA change

1–12 of 52 variants

NM_182533.4

p.R17P

c.50G>C

NM_182533.4

p.P126S

c.376C>T

NM_182533.4

p.D164A

c.491A>C

NM_182533.4

p.C70Y

c.209G>A

NM_182533.4

p.S117A

c.349T>G

NM_182533.4

p.G32A

c.95G>C

NM_182533.4

p.K83R

c.248A>G

NM_182533.4

p.S113A

c.337T>G

NM_182533.4

p.K152R

c.455A>G

NM_001282670.2

p.R90*

c.268C>T

NM_182533.4

p.R14Q

c.41G>A

NM_182533.4

p.R15del1

c.43_45delCCT