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

65 papers

NM_007294.4

p.M1008I

c.3024G>T

Surrounding Variants

1 paper

NM_007294.4

p.M1008fs

c.3022_3023fs

61 papers

NM_007294.4

p.M1008I

c.3024G>C

68 papers

NM_007294.4

p.M1008I

c.3024G>A

1 paper

NM_007294.4

p.S1007_M1008delFs

c.3020_3023del4

1 paper

NM_007294.4

p.S1009_P1010insA

c.3025_3029ins3

4 papers

NM_007294.4

p.S1009P

c.3025T>C

1 paper

NM_007294.4

p.M1008T

c.3023T>C

1 paper

NM_007294.4

p.M1008fs

c.3022_3023fs

3 papers

NM_007294.4

p.S1009L

c.3026C>T

6 papers

NM_007294.4

p.S1009*

c.3026C>G

6 papers

NM_007294.4

p.S1009*

c.3026C>A

2 papers

NM_007294.4

p.M1008L

c.3022A>T