Varaico: Literature-Extracted Genetic Variants

FANCI

607 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

FANCI_S1-capaa 1–53UCSCFANCI solenoid 1 cap

FANCI_S1aa 62–280UCSCFANCI solenoid 1

FANCI_HD1aa 284–370UCSCFANCI helical domain 1

FANCI_S2aa 378–541UCSCFANCI solenoid 2

FANCI_HD2aa 555–786UCSCFANCI helical domain 2

FANCI_S3aa 804–1032UCSCFANCI solenoid 3

Gene Aliases

HGNC Name

FA complementation group I

HGNC Previous Symbol

KIAA1794

Papers

RefSeq ID

Protein change

DNA change

1–12 of 1403 variants

30 papers

NM_001113378.2

p.R1285*

c.3853C>T

22 papers

NM_001113378.2

p.L605F

c.1813C>T

20 papers

NM_001113378.2

p.R1285Q

c.3854G>A

18 papers

NM_001113378.2

p.K523R

c.1568A>G

17 papers

NM_001113378.2

p.E96K

c.286G>A

17 papers

NM_001113378.2

p.C742S

c.2224T>A

17 papers

NM_001113378.2

p.C742S

c.2225G>C

15 papers

NM_001113378.2

p.A86V

c.257C>T

14 papers

NM_001113378.2

p.I275T

c.824T>C

14 papers

NM_001113378.2

p.Y487*

c.1461T>A

13 papers

NM_001113378.2

p.P55L

c.164C>T

13 papers

NM_001113378.2

p.Y487*

c.1461T>G