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

1–12 of 19704 variants

1486 papers

NM_007294.4

p.E1794_L1795insFs

c.5382_5383insC

981 papers

NM_007294.4

p.C61G

c.181T>G

747 papers

NM_007294.4

p.Q1756insFs

c.5267_5268insC

671 papers

NM_007294.4

p.E23delFs

c.68_69delCT

382 papers

NM_007294.4

p.P871L

c.2612C>T

378 papers

NM_007294.4

p.A1708E

c.5123C>A

357 papers

NM_007294.4

p.E1038G

c.3113A>G

344 papers

NM_007294.4

p.K1183R

c.3548A>G

339 papers

NM_007294.4

p.R1443*

c.4327C>T

323 papers

NM_007294.4

p.S1613G

c.4837A>G

290 papers

NM_007294.4

p.Q356R

c.1067A>G

270 papers

NM_007294.4

p.M1775R

c.5324T>G