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.P1523L

c.4568C>T

Surrounding Variants

2 papers

NM_007294.4

p.P1523Q

c.4568C>A

2 papers

NM_007294.4

p.P1523S

c.4567C>T

2 papers

NM_007294.4

p.P1523A

c.4567C>G

1 paper

NM_007294.4

p.N1521_P1523Fs

c.4562_4567delinsGAGGAGCTFs

2 papers

NM_007294.4

p.P1523insFs

c.4567_4568dupCC

1 paper

NM_007294.4

p.P1523delFs

c.4568delG

1 paper

NM_007294.4

p.P1523fs

c.4567_4568fs

24 papers

NM_007294.4

p.S1524A

c.4570T>G

1 paper

NM_007294.4

p.S1524P

c.4570T>C

2 papers

NM_007294.4

p.S1524fs

c.4570_4571fs

2 papers

NM_007294.4

p.Y1522Y

c.4566C>T

9 papers

NM_007294.4

p.Y1522*

c.4566C>G