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.Q155L

c.464A>T

Surrounding Variants

5 papers

NM_007294.4

p.Q155R

c.464A>G

2 papers

NM_007294.4

p.Q155P

c.464A>C

4 papers

NM_007294.4

p.Q155insFs

c.463dupC

3 papers

NM_007294.4

p.V154_Q155delFs

c.462_463delGG

8 papers

NM_007294.4

p.Q155*

c.463C>T

23 papers

NM_007294.4

p.Q155E

c.463C>G

1 paper

NM_007294.4

p.Q155K

c.463C>A

1 paper

NM_007294.4

p.V154delFs

c.461_462delGA

3 papers

NM_007294.4

p.Q155H

c.465A>T

1 paper

NM_007294.4

p.Q155Q

c.465A>G

3 papers

NM_007294.4

p.Q155H

c.465A>C

1 paper

NM_007294.4

p.Q155_L156insFs

c.465_466insT