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.K152R

c.455A>G

Surrounding Variants

NM_182533.4

p.K152Q

c.454A>C

NM_182533.4

p.C150S

c.449G>C

NM_182533.4

p.C150S

c.448T>A

NM_182533.4

p.P156S

c.466C>T

NM_182533.4

p.P148H

c.443C>A

NM_182533.4

p.R157M

c.470G>T

NM_182533.4

p.A129_Q134del6

c.385_401del18

NM_182533.4

p.P126S

c.376C>T

NM_182533.4

p.D125N

c.373G>A

NM_182533.4

p.R121R

c.363C>T

NM_182533.4

p.L118L

c.352C>T

NM_182533.4

p.L118M

c.352C>A