Varaico: Literature-Extracted Genetic Variants

FANCM

824 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

DEADaa 92–255UCSCDEAD/DEAH box helicase

Helicase_Caa 449–581UCSCHelicase conserved C-terminal domain

FANCM-MHF_bdaa 675–790UCSCFANCM to MHF binding domain

ERCC4aa 1826–1948UCSCERCC4 domain

Gene Aliases

HGNC Name

FA complementation group M

HGNC Previous Symbol

KIAA1596

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020937.4

p.P1709fs

c.5125_5126fs

Surrounding Variants

1 paper

NM_020937.4

p.P1709delFs

c.5126delC

1 paper

NM_020937.4

p.S1710F

c.5129C>T

1 paper

NM_020937.4

p.G1711V

c.5132G>T

4 papers

NM_020937.4

p.N1706T

c.5117A>C

1 paper

NM_020937.4

p.S1712T

c.5134T>A

1 paper

NM_020937.4

p.S1712F

c.5135C>T

1 paper

NM_020937.4

p.L1705_N1706delFs

c.5115_5118del4

1 paper

NM_020937.4

p.S1713F

c.5138C>T

4 papers

NM_020937.4

p.A1714V

c.5141C>T

4 papers

NM_020937.4

p.H1703R

c.5108A>G

2 papers

NM_020937.4

p.A1714A

c.5142G>A

2 papers

NM_020937.4

p.H1703D

c.5107C>G