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_007300.4

p.K1780fs

c.5338_5339fs

NM_007294.4

p.K1759fs

c.5275_5276fs

Surrounding Variants

12 papers

NM_007294.4

p.K1759N

c.5277G>T

1 paper

NM_007294.4

p.K1759_I1760insFs

c.5277_5278insTA

11 papers

NM_007294.4

p.K1759N

c.5277G>C

8 papers

NM_007294.4

p.K1759K

c.5277G>A

4 papers

NM_007294.4

p.K1759delFs

c.5276delT

1 paper

NM_007294.4

p.R1758_K1759delFs

c.5274_5275delTT

1 paper

NM_007294.4

p.D1757_K1759delFs

c.5270_5276del7

4 papers

NM_007294.4

p.K1759_I1760Splc

c.5277+1G>T

3 papers

NM_007294.4

p.K1759insFs

c.5276_5277dupAG

2 papers

NM_007294.4

p.K1759_I1760Splc

c.5277+1G>C

64 papers

NM_007294.4

p.K1759_I1760Splc

c.5277+1G>A

NM_007300.4

p.K1780_I1781Splc

c.5340+1G>A

NM_007298.4

p.K655_I656Splc

c.1965+1G>A

4 papers

NM_007294.4

p.K1759del1

c.5275_5276delCTT