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

1 paper

NM_007294.4

p.M1510fs

c.4528_4529fs

Surrounding Variants

1 paper

NM_007294.4

p.M1510L

c.4528A>T

1 paper

NM_007294.4

p.M1510V

c.4528A>G

1 paper

NM_007294.4

p.M1510L

c.4528A>C

1 paper

NM_007294.4

p.M1510_H1511insA

c.4528_4532ins3

4 papers

NM_007294.4

p.D1505_Y1509del5

c.4513_4526del15

1 paper

NM_007294.4

p.P1502_Y1509del8

c.4504_4526del24

2 papers

NM_007294.4

p.S1497_Y1509del13

c.4489_4526del39

3 papers

NM_007294.4

p.M1510T

c.4529T>C

1 paper

NM_007294.4

p.M1510K

c.4529T>A

1 paper

NM_007294.4

p.M1510delFs

c.4528delT

2 papers

NM_007294.4

p.Y1509Y

c.4527C>T

4 papers

NM_007294.4

p.Y1509*

c.4527C>G