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

1 paper

NM_007294.4

p.Q975H

c.2925A>C

Surrounding Variants

2 papers

NM_007294.4

p.Q975H

c.2925A>T

3 papers

NM_007294.4

p.Q975R

c.2924A>G

1 paper

NM_007294.4

p.N976_P977insA

c.2926_2930ins3

13 papers

NM_007294.4

p.Q975*

c.2923C>T

2 papers

NM_007294.4

p.Q975K

c.2923C>A

1 paper

NM_007294.4

p.N976S

c.2927A>G

1 paper

NM_007294.4

p.N976N

c.2928C>T

1 paper

NM_007294.4

p.N976K

c.2928C>G

1 paper

NM_007294.4

p.N976K

c.2928C>A

6 papers

NM_007294.4

p.Q975delFs

c.2924delT

1 paper

NM_007294.4

p.N976delFs

c.2926_2927delTT

5 papers

NM_007294.4

p.L974delFs

c.2921delA