Varaico: Literature-Extracted Genetic Variants

BRCA1

8,702 papers

RefSeq Summary

This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of ...

Pfam Domains

zf-RING_UBOXaa 24–52UCSCRING-type zinc-finger

zf-C3HC4aa 24–64UCSCZinc finger, C3HC4 type (RING finger)

BRCT_assocaa 345–508UCSCSerine-rich domain associated with BRCT

BRCTaa 1642–1723UCSCBRCA1 C Terminus (BRCT) domain

BRCTaa 1756–1842UCSCBRCA1 C Terminus (BRCT) domain

Gene Aliases

HGNC Name

BRCA1 DNA repair associated

HGNC Alias Symbols

RNF53; BRCC1; PPP1R53; FANCS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_007294.4

p.N500N

c.1500T>C

Surrounding Variants

36 papers

NM_007294.4

p.N500insFs

c.1499_1500insA

6 papers

NM_007294.4

p.N500K

c.1500T>G

6 papers

NM_007294.4

p.N500K

c.1500T>A

2 papers

NM_007294.4

p.N500delFs

c.1499delT

1 paper

NM_007294.4

p.N500delFs

c.1498_1499delTT

1 paper

NM_007294.4

p.K501*

c.1501A>T

4 papers

NM_007294.4

p.K501E

c.1501A>G

2 papers

NM_007294.4

p.N500S

c.1499A>G

1 paper

NM_007294.4

p.N500_K501ins1

c.1500_1501insTTT

1 paper

NM_007294.4

p.N500_K501insFs

c.1500_1501ins5

2 papers

NM_007294.4

p.E495_N500delFs

c.1483_1498del16

1 paper

NM_007294.4

p.N500fs

c.1498_1499fs