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

40 papers

NM_007294.4

p.L1564P

c.4691T>C

Surrounding Variants

1 paper

NM_007294.4

p.L1564R

c.4691T>G

1 paper

NM_007294.4

p.L1564Q

c.4691T>A

2 papers

NM_007294.4

p.L1564delFs

c.4690delG

1 paper

NM_007294.4

p.L1564fs

c.4690_4691fs

1 paper

NM_007294.4

p.L1564L

c.4690C>T

1 paper

NM_007294.4

p.L1564V

c.4690C>G

3 papers

NM_007294.4

p.E1565*

c.4693G>T

1 paper

NM_007294.4

p.E1565_S1566insC

c.4693_4697ins3

1 paper

NM_007294.4

p.E1565Q

c.4693G>C

2 papers

NM_007294.4

p.E1565K

c.4693G>A

112 papers

NM_007294.4

p.Y1563*

c.4689C>G

NM_007300.4

p.Y1584*

c.4752C>G

1 paper

NM_007294.4

p.Y1563fs

c.4687_4688fs