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.N1259fs

c.3775_3776fs

Surrounding Variants

2 papers

NM_007294.4

p.E1258del1

c.3772_3773delCTC

9 papers

NM_007294.4

p.E1258D

c.3774G>T

9 papers

NM_007294.4

p.E1258D

c.3774G>C

1 paper

NM_007294.4

p.E1258E

c.3774G>A

7 papers

NM_007294.4

p.N1259T

c.3776A>C

1 paper

NM_007294.4

p.E1258delFs

c.3772_3773delTC

1 paper

NM_007294.4

p.E1258G

c.3773A>G

2 papers

NM_007294.4

p.L1260insFs

c.3778_3779insA

5 papers

NM_007294.4

p.L1260V

c.3778T>G

1 paper

NM_007294.4

p.E1250_N1259del0

c.3748_3777del30

3 papers

NM_007294.4

p.E1258*

c.3772G>T

1 paper

NM_007294.4

p.E1258_N1259ins5

c.3772_3776ins15