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

20 papers

NM_007294.4

p.R1495Splc

c.4485-2A>G

NM_007300.4

p.R1516Splc

c.4548-2A>G

Surrounding Variants

6 papers

NM_007294.4

p.R1495Splc

c.4485-2A>T

10 papers

NM_007294.4

p.R1495Splc

c.4485-2A>C

1 paper

NM_007294.4

p.R1495Splc

c.4485-3T>G

100 papers

NM_007294.4

p.R1495M

c.4484G>T

24 papers

NM_007294.4

p.R1495T

c.4484G>C

47 papers

NM_007294.4

p.R1495K

c.4484G>A

NM_007300.4

p.R1495Splc

c.4485-1G>A

1 paper

NM_007294.4

p.R1495S

c.4485G>T

1 paper

NM_007294.4

p.R1495S

c.4485G>C

1 paper

NM_007294.4

p.R1495R

c.4485G>A

1 paper

NM_007294.4

p.R1495Splc

c.4485-4C>G

2 papers

NM_007294.4

p.S1496P

c.4486T>C

2 papers

NM_007294.4

p.S1496T

c.4486T>A