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

3 papers

NM_007294.4

p.N997delFs

c.2990delT

Surrounding Variants

8 papers

NM_007294.4

p.N997fs

c.2989_2990fs

4 papers

NM_007294.4

p.N997insFs

c.2990dupA

20 papers

NM_007294.4

p.N997insFs

c.2989_2990dupAA

1 paper

NM_007294.4

p.N997K

c.2991T>G

1 paper

NM_007294.4

p.N997N

c.2991T>C

3 papers

NM_007294.4

p.L998V

c.2992C>G

1 paper

NM_007294.4

p.L998ins1

c.2992_2993insCCC

2 papers

NM_007294.4

p.L998R

c.2993T>G

1 paper

NM_007294.4

p.L998P

c.2993T>C

5 papers

NM_007294.4

p.L998Q

c.2993T>A

7 papers

NM_007294.4

p.N997fs

c.2989_2990fs

1 paper

NM_007294.4

p.L998_L999insFs

c.2994_2995insT