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

11 papers

NM_007294.4

p.L771_T775del5

c.2311_2324del15

Surrounding Variants

1 paper

NM_007294.4

p.D776N

c.2326G>A

1 paper

NM_007294.4

p.T775delFs

c.2324delG

1 paper

NM_007294.4

p.G774_T775del2

c.2320_2324del6

1 paper

NM_007294.4

p.D776fs

c.2326_2327fs

1 paper

NM_007294.4

p.D776delFs

c.2327delT

1 paper

NM_007294.4

p.T775_D776delFs

c.2324_2327del4

5 papers

NM_007294.4

p.T775I

c.2324C>T

2 papers

NM_007294.4

p.T775S

c.2324C>G

1 paper

NM_007294.4

p.T775insFs

c.2324_2325ins8

7 papers

NM_007294.4

p.Y777D

c.2329T>G

1 paper

NM_007294.4

p.Y777H

c.2329T>C

1 paper

NM_007294.4

p.T775_D776del2

c.2323_2327del6