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.I815V

c.2443A>G

Surrounding Variants

4 papers

NM_007294.4

p.I815fs

c.2443_2444fs

1 paper

NM_007294.4

p.I815insFs

c.2444_2445insA

1 paper

NM_007294.4

p.I815T

c.2444T>C

5 papers

NM_007294.4

p.L814delFs

c.2442delT

3 papers

NM_007294.4

p.L814insFs

c.2441dupT

1 paper

NM_007294.4

p.I815fs

c.2443_2444fs

1 paper

NM_007294.4

p.L814P

c.2441T>C

1 paper

NM_007294.4

p.L814Q

c.2441T>A

2 papers

NM_007294.4

p.L814delFs

c.2440delG

1 paper

NM_007294.4

p.H816fs

c.2446_2447fs

2 papers

NM_007294.4

p.H816Y

c.2446C>T

1 paper

NM_007294.4

p.L814L

c.2440C>T