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.N824_K830delins

c.2472_2490delinsGTAT

Surrounding Variants

1 paper

NM_007294.4

p.K830N

c.2490G>T

1 paper

NM_007294.4

p.K830_Y831insFs

c.2490_2491insT

3 papers

NM_007294.4

p.K830fs

c.2488_2489fs

1 paper

NM_007294.4

p.K830insFs

c.2489_2490ins10

1 paper

NM_007294.4

p.K830N

c.2490G>C

1 paper

NM_007294.4

p.Y831D

c.2491T>G

1 paper

NM_007294.4

p.Y831fs

c.2491_2492fs

1 paper

NM_007294.4

p.K830M

c.2489A>T

1 paper

NM_007294.4

p.K830R

c.2489A>G

1 paper

NM_007294.4

p.K830insFs

c.2489_2490insT

6 papers

NM_007294.4

p.K830*

c.2488A>T

8 papers

NM_007294.4

p.K830E

c.2488A>G