Varaico: Literature-Extracted Genetic Variants

FANCA

1,569 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

Fanconi_A_Naa 136–265UCSCFanconi anaemia group A protein N terminus

Fanconi_A_Naa 170–524UCSCFanconi anaemia group A protein N terminus

FANCA_helicalaa 544–625UCSCFANCA helical domain

FANCA_arcNaa 648–880UCSCFANCA arcN subdomain

FANCA_CTDaa 1225–1431UCSCFanconi anaemia group A protein C-terminal domain

Gene Aliases

HGNC Name

FA complementation group A

HGNC Previous Symbols

FACA; FANCH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000135.4

p.K502insFs

c.1505dupA

Surrounding Variants

1 paper

NM_000135.4

p.Y503fs

c.1507_1508fs

1 paper

NM_000135.4

p.Y503*

c.1509C>G

1 paper

NM_000135.4

p.Y503insFs

c.1508dupA

1 paper

NM_000135.4

p.Y503*

c.1509C>A

4 papers

NM_000135.4

p.R504C

c.1510C>T

1 paper

NM_000135.4

p.R504G

c.1510C>G

1 paper

NM_000135.4

p.R504S

c.1510C>A

1 paper

NM_000135.4

p.R504L

c.1511G>T

52 papers

NM_000135.4

p.G501S

c.1501G>A

5 papers

NM_000135.4

p.R504H

c.1511G>A

1 paper

NM_000135.4

p.R504R

c.1512C>T

1 paper

NM_000135.4

p.S505A

c.1513T>G