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

4 papers

NM_007294.4

p.G535R

c.1603G>A

Surrounding Variants

3 papers

NM_007294.4

p.G535*

c.1603G>T

1 paper

NM_007294.4

p.G535_T536insAT

c.1603_1607ins6

3 papers

NM_007294.4

p.G535R

c.1603G>C

3 papers

NM_007294.4

p.Q534delFs

c.1601_1602delCT

1 paper

NM_007294.4

p.G535V

c.1604G>T

1 paper

NM_007294.4

p.Q534H

c.1602G>T

2 papers

NM_007294.4

p.Q534fs

c.1600_1601fs

1 paper

NM_007294.4

p.Q534insFs

c.1601dupA

1 paper

NM_007294.4

p.G535A

c.1604G>C

1 paper

NM_007294.4

p.Q534H

c.1602G>C

1 paper

NM_007294.4

p.I532_Q534delFs

c.1595_1601del7

20 papers

NM_007294.4

p.Q534R

c.1601A>G