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.K862N

c.2586G>C

Surrounding Variants

3 papers

NM_007294.4

p.K862N

c.2586G>T

2 papers

NM_007294.4

p.V863fs

c.2587_2588fs

1 paper

NM_007297.4

p.V816L

c.2446G>C

1 paper

NM_007294.4

p.D853_K862delFs

c.2558_2586del29

2 papers

NM_007294.4

p.K862M

c.2585A>T

2 papers

NM_007294.4

p.K862R

c.2585A>G

1 paper

NM_007294.4

p.V863ins2

c.2588_2589ins6

1 paper

NM_007294.4

p.V863insFs

c.2588_2589insA

1 paper

NM_007294.4

p.V863delFs

c.2587delC

1 paper

NM_007294.4

p.E849_V863del0

c.2546_2587del42

1 paper

NM_007294.4

p.K862fs

c.2584_2585fs

36 papers

NM_007294.4

p.K862E

c.2584A>G