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

1 paper

NM_007294.4

p.C1787_T1799del13

c.5359_5396del39

Surrounding Variants

3 papers

NM_007294.4

p.L1800fs

c.5398_5399fs

8 papers

NM_007294.4

p.L1800F

c.5398C>T

3 papers

NM_007294.4

p.L1800V

c.5398C>G

1 paper

NM_007294.4

p.L1800I

c.5398C>A

1 paper

NM_007294.4

p.F1798_T1799del2

c.5392_5396del6

1 paper

NM_007294.4

p.S1790_T1799delFs

c.5370_5397del28

2 papers

NM_007294.4

p.L1800R

c.5399T>G

1 paper

NM_007294.4

p.L1800P

c.5399T>C

1 paper

NM_007294.4

p.L1800H

c.5399T>A

2 papers

NM_007294.4

p.L1800delFs

c.5398delG

1 paper

NM_007294.4

p.T1799_L1800delFs

c.5397_5398delGG

1 paper

NM_007294.4

p.T1799T

c.5397C>T