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

41 papers

NM_007294.4

p.G183Splc

c.547+2T>A

Surrounding Variants

7 papers

NM_007294.4

p.G183Splc

c.547+2T>G

7 papers

NM_007294.4

p.G183Splc

c.547+2T>C

18 papers

NM_007294.4

p.G183Splc

c.547+1G>T

1 paper

NM_007294.4

p.K175_G183ins3

c.524_547dup24

10 papers

NM_007294.4

p.G183Splc

c.547+1G>A

4 papers

NM_007294.4

p.Q172_G183delFs

c.514_547del34

6 papers

NM_007294.4

p.G183Splc

c.547+3A>T

1 paper

NM_007294.4

p.T176_G183delFs

c.528_547del20

1 paper

NM_007294.4

p.G183*

c.547G>T

1 paper

NM_007294.4

p.G183R

c.547G>A

2 papers

NM_007294.4

p.S177_L182del0

c.529_546del18

2 papers

NM_007294.4

p.I171_L182del12

c.511_545del36