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.E1581fs

c.4741_4742fs

Surrounding Variants

2 papers

NM_007294.4

p.E1581D

c.4743A>T

3 papers

NM_007294.4

p.E1581D

c.4743A>C

1 paper

NM_007294.4

p.D1582Fs

c.4744delinsCCFs

1 paper

NM_007294.4

p.D1582N

c.4744G>A

4 papers

NM_007294.4

p.E1581delFs

c.4742delT

NM_007300.4

p.E1602delFs

c.4806delT

3 papers

NM_007294.4

p.D1582fs

c.4744_4745fs

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

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