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

221 papers

NM_007294.4

p.I68_T69del2

c.202_206del6

Surrounding Variants

6 papers

NM_007294.4

p.K70I

c.209A>T

9 papers

NM_007294.4

p.K70R

c.209A>G

5 papers

NM_007294.4

p.K70T

c.209A>C

7 papers

NM_007294.4

p.K70N

c.210A>T

1 paper

NM_007294.4

p.K70*

c.208A>T

8 papers

NM_007294.4

p.K70E

c.208A>G

2 papers

NM_007294.4

p.K70K

c.210A>G

7 papers

NM_007294.4

p.K70N

c.210A>C

5 papers

NM_007294.4

p.K70Q

c.208A>C

6 papers

NM_007294.4

p.K70_R71ins4

c.208_212ins12

1 paper

NM_007294.4

p.T69delFs

c.206delG

2 papers

NM_007294.4

p.D67_T69del0

c.199_207del9