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

5 papers

NM_007294.4

p.G834R

c.2500G>A

Surrounding Variants

3 papers

NM_007294.4

p.G834*

c.2500G>T

3 papers

NM_007294.4

p.G834R

c.2500G>C

1 paper

NM_007294.4

p.L833F

c.2499G>T

1 paper

NM_007294.4

p.L833fs

c.2497_2498fs

5 papers

NM_007294.4

p.G834E

c.2501G>A

2 papers

NM_007294.4

p.L833delFs

c.2498delA

1 paper

NM_007294.4

p.F829_P832del4

c.2485_2495del12

4 papers

NM_007294.4

p.K830_L833insFs

c.2490_2497dup8

1 paper

NM_007294.4

p.K830_L833insFs

c.2488_2497dup10

5 papers

NM_007294.4

p.L833W

c.2498T>G

5 papers

NM_007294.4

p.L833*

c.2498T>A

1 paper

NM_007294.4

p.G834insFs

c.2500_2501insG