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.Y465H

c.1393T>C

Surrounding Variants

1 paper

NM_007294.4

p.Y465insFs

c.1393_1394insG

1 paper

NM_007294.4

p.T464_Y465insFs

c.1392_1393insC

1 paper

NM_007294.4

p.Y465_R466insT

c.1393_1397ins3

4 papers

NM_007294.4

p.Y465D

c.1393T>G

1 paper

NM_007294.4

p.Y465N

c.1393T>A

2 papers

NM_007294.4

p.T464delFs

c.1392delG

1 paper

NM_007294.4

p.K463_T464del2

c.1387_1391del6

2 papers

NM_007294.4

p.Y465fs

c.1393_1394fs

7 papers

NM_007294.4

p.T464T

c.1392C>T

1 paper

NM_007294.4

p.T464T

c.1392C>G

1 paper

NM_007294.4

p.T464_Y465insFs

c.1392_1393insT

3 papers

NM_007294.4

p.T464fs

c.1390_1391fs