Varaico: Literature-Extracted Genetic Variants

BRCA2

8,447 papers

RefSeq Summary

Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specific...

Pfam Domains

BRCA2aa 1005–1033UCSCBRCA2 repeat

BRCA2aa 1215–1243UCSCBRCA2 repeat

BRCA2aa 1424–1452UCSCBRCA2 repeat

BRCA2aa 1520–1548UCSCBRCA2 repeat

BRCA2aa 1667–1695UCSCBRCA2 repeat

BRCA2aa 1974–2002UCSCBRCA2 repeat

Gene Aliases

HGNC Name

BRCA2 DNA repair associated

HGNC Previous Symbols

FANCD1; FACD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_000059.4

p.T2968fs

c.8902_8903fs

Surrounding Variants

7 papers

NM_000059.4

p.T2968A

c.8902A>G

45 papers

NM_000059.4

p.T2968delFs

c.8904delC

2 papers

NM_000059.4

p.T2968fs

c.8902_8903fs

1 paper

NM_000059.4

p.T2967T

c.8901A>G

1 paper

NM_000059.4

p.T2968N

c.8903C>A

1 paper

NM_000059.4

p.T2967K

c.8900C>A

1 paper

NM_000059.4

p.T2968insFs

c.8902dupA

3 papers

NM_000059.4

p.T2968T

c.8904C>T

2 papers

NM_000059.4

p.T2967fs

c.8899_8900fs

4 papers

NM_000059.4

p.T2967A

c.8899A>G

2 papers

NM_000059.4

p.T2967fs

c.8899_8900fs

39 papers

NM_000059.4

p.V2969M

c.8905G>A