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

5 papers

NM_007294.4

p.E1581K

c.4741G>A

Surrounding Variants

6 papers

NM_007294.4

p.E1581*

c.4741G>T

1 paper

NM_007300.4

p.S1601insFs

c.4803dupT

1 paper

NM_007294.4

p.L1570_S1580insFs

c.4710_4740dup31

6 papers

NM_007294.4

p.E1581Q

c.4741G>C

4 papers

NM_007294.4

p.P1579_S1580del2

c.4735_4739del6

1 paper

NM_007294.4

p.S1572_S1580delFs

c.4715_4740del26

3 papers

NM_007294.4

p.E1581fs

c.4741_4742fs

7 papers

NM_007294.4

p.P1579_S1580delFs

c.4736_4739del4

2 papers

NM_007294.4

p.E1581V

c.4742A>T

9 papers

NM_007294.4

p.S1580_E1581insFs

c.4740_4741insTG

1 paper

NM_007294.4

p.S1580_E1581delFs

c.4740_4741delCA

15 papers

NM_007294.4

p.S1580F

c.4739C>T