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.R1188fs

c.3562_3563fs

Surrounding Variants

1 paper

NM_007294.4

p.R1188G

c.3562A>G

1 paper

NM_007294.4

p.R1188_S1189ins4

c.3562_3566ins12

1 paper

NM_007294.4

p.R1188M

c.3563G>T

1 paper

NM_007294.4

p.K1183_S1187delFs

c.3547_3560del14

7 papers

NM_007294.4

p.S1187I

c.3560G>T

2 papers

NM_007294.4

p.R1188S

c.3564G>T

3 papers

NM_007294.4

p.R1188S

c.3564G>C

2 papers

NM_007294.4

p.S1187T

c.3560G>C

14 papers

NM_007294.4

p.S1187N

c.3560G>A

1 paper

NM_007294.4

p.R1188R

c.3564G>A

1 paper

NM_007294.4

p.R1188delFs

c.3562_3563delCT

1 paper

NM_007294.4

p.S1187_R1188delFs

c.3559_3563del5