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.V487G

c.1460T>G

Surrounding Variants

2 papers

NM_007294.4

p.V487insFs

c.1459_1460insG

1 paper

NM_007294.4

p.V487A

c.1460T>C

7 papers

NM_007294.4

p.A485_F486del2

c.1453_1457del6

2 papers

NM_007294.4

p.V487_T488insFs

c.1461_1462insA

1 paper

NM_007294.4

p.V487V

c.1461T>C

2 papers

NM_007294.4

p.V487V

c.1461T>A

1 paper

NM_007294.4

p.V487fs

c.1459_1460fs

6 papers

NM_007294.4

p.V487F

c.1459G>T

1 paper

NM_007294.4

p.V487I

c.1459G>A

1 paper

NM_007294.4

p.F486delFs

c.1457_1458delAA

1 paper

NM_007294.4

p.F486_V487insFs

c.1458_1459insG

74 papers

NM_007294.4

p.F486L

c.1458T>G