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.S1497fs

c.4489_4490fs

Surrounding Variants

6 papers

NM_007294.4

p.S1497S

c.4491C>T

2 papers

NM_007294.4

p.S1497S

c.4491C>A

2 papers

NM_007294.4

p.P1498fs

c.4492_4493fs

1 paper

NM_007294.4

p.P1498S

c.4492C>T

1 paper

NM_007294.4

p.P1498T

c.4492C>A

1 paper

NM_007294.4

p.S1497Y

c.4490C>A

1 paper

NM_007294.4

p.S1496_S1497del2

c.4486_4490del6

13 papers

NM_007294.4

p.S1497A

c.4489T>G

2 papers

NM_007294.4

p.S1497P

c.4489T>C

2 papers

NM_007294.4

p.P1498L

c.4493C>T

4 papers

NM_007294.4

p.P1498R

c.4493C>G

1 paper

NM_007294.4

p.P1498H

c.4493C>A