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.A1843_L1844delins

c.5529_5530delinsCA

Surrounding Variants

3 papers

NM_007294.4

p.L1844F

c.5530C>T

6 papers

NM_007294.4

p.L1844I

c.5530C>A

10 papers

NM_007294.4

p.L1844fs

c.5530_5531fs

25 papers

NM_007294.4

p.L1844R

c.5531T>G

15 papers

NM_007294.4

p.L1844P

c.5531T>C

16 papers

NM_007294.4

p.L1844delFs

c.5530delG

1 paper

NM_007294.4

p.A1843A

c.5529A>T

1 paper

NM_007294.4

p.A1843A

c.5529A>C

4 papers

NM_007294.4

p.A1843V

c.5528C>T

3 papers

NM_007294.4

p.L1844L

c.5532C>T

3 papers

NM_007294.4

p.L1844_Y1845insFs

c.5532_5533insG

1 paper

NM_007294.4

p.L1844fs

c.5530_5531fs