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

Selected Variant

NM_182533.4

p.R14Q

c.41G>A

Surrounding Variants

NM_182533.4

p.R15del1

c.43_45delCCT

NM_182533.4

p.R17P

c.50G>C

NM_182533.4

p.G24R

c.70G>C

NM_182533.4

p.G32A

c.95G>C

NM_182533.4

p.D34G

c.101A>G

NM_182533.4

p.R36L

c.107G>T

NM_182533.4

p.L39L

c.117C>T

NM_182533.4

p.A41V

c.122C>T

NM_182533.4

p.L43P

c.128T>C

NM_182533.4

p.L44Q

c.131T>A

NM_182533.4

p.R45C

c.133C>T

NM_182533.4

p.L43_R45del0

c.129_134del6