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

2 papers

NM_007294.4

p.Y831C

c.2492A>G

Surrounding Variants

2 papers

NM_007294.4

p.Y831insFs

c.2491_2492insT

3 papers

NM_007294.4

p.F829_K830del2

c.2485_2489del6

1 paper

NM_007294.4

p.T826_Y831Fs

c.2477_2492delinsTGFs

1 paper

NM_007294.4

p.Y831fs

c.2491_2492fs

1 paper

NM_007294.4

p.Y831*

c.2493T>G

1 paper

NM_007294.4

p.Y831D

c.2491T>G

1 paper

NM_007294.4

p.Y831Y

c.2493T>C

1 paper

NM_007294.4

p.Y831*

c.2493T>A

1 paper

NM_007294.4

p.Y831fs

c.2491_2492fs

1 paper

NM_007294.4

p.K830_Y831delFs

c.2489_2492del4

1 paper

NM_007294.4

p.K830N

c.2490G>T

1 paper

NM_007294.4

p.K830_Y831insFs

c.2490_2491insT