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.S117A

c.349T>G

Surrounding Variants

NM_182533.4

p.L118L

c.352C>T

NM_182533.4

p.L118M

c.352C>A

NM_182533.4

p.S113A

c.337T>G

NM_182533.4

p.R121R

c.363C>T

NM_182533.4

p.D125N

c.373G>A

NM_182533.4

p.P126S

c.376C>T

NM_182533.4

p.A107T

c.319G>A

NM_182533.4

p.R99H

c.296G>A

NM_182533.4

p.A129_Q134del6

c.385_401del18

NM_182533.4

p.P89L

c.266C>T

NM_182533.4

p.P148H

c.443C>A

NM_182533.4

p.C150S

c.448T>A