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.L1570L

c.4710C>T

Surrounding Variants

3 papers

NM_007294.4

p.L1570insFs

c.4709dupT

1 paper

NM_007294.4

p.S1569_L1570delFs

c.4706_4709del4

3 papers

NM_007294.4

p.F1571L

c.4711T>C

2 papers

NM_007294.4

p.L1570P

c.4709T>C

2 papers

NM_007294.4

p.F1571I

c.4711T>A

2 papers

NM_007294.4

p.G1567_L1570delFs

c.4699_4708del10

6 papers

NM_007294.4

p.F1571fs

c.4711_4712fs

7 papers

NM_007294.4

p.F1571S

c.4712T>C

1 paper

NM_007294.4

p.L1570delFs

c.4708_4709delAG

5 papers

NM_007294.4

p.L1570F

c.4708C>T

1 paper

NM_007294.4

p.L1570V

c.4708C>G

1 paper

NM_007294.4

p.I1568_S1569del2

c.4702_4706del6