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.N13T

c.38A>C

Surrounding Variants

7 papers

NM_007294.4

p.N13I

c.38A>T

9 papers

NM_007294.4

p.N13S

c.38A>G

1 paper

NM_007294.4

p.N13insFs

c.38_39insTA

1 paper

NM_007294.4

p.M1_Q12del0

c.1_36del36

1 paper

NM_007294.4

p.N13_V14insFs

c.39_40ins7

1 paper

NM_007294.4

p.N13fs

c.37_38fs

4 papers

NM_007294.4

p.Q12_N13insFs

c.36_37insA

1 paper

NM_007294.4

p.Q12_N13insFs

c.36_37insAA

1 paper

NM_007294.4

p.N13insFs

c.37_38ins37

8 papers

NM_007294.4

p.N13K

c.39T>G

1 paper

NM_007294.4

p.N13N

c.39T>C

8 papers

NM_007294.4

p.N13K

c.39T>A