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.D853fs

c.2557_2558fs

Surrounding Variants

1 paper

NM_007294.4

p.D853Y

c.2557G>T

4 papers

NM_007294.4

p.L852_D853insFs

c.2556_2557ins10

2 papers

NM_007294.4

p.D853N

c.2557G>A

1 paper

NM_007294.4

p.L852fs

c.2554_2555fs

1 paper

NM_007294.4

p.D853V

c.2558A>T

7 papers

NM_007294.4

p.D853_A854insFs

c.2559_2560insA

1 paper

NM_007294.4

p.L852R

c.2555T>G

1 paper

NM_007294.4

p.L852P

c.2555T>C

2 papers

NM_007294.4

p.E851_L852del2

c.2551_2555del6

1 paper

NM_007294.4

p.A854T

c.2560G>A

2 papers

NM_007294.4

p.L852V

c.2554C>G

1 paper

NM_007294.4

p.E851insFs

c.2552_2553dupAA