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.A807P

c.2419G>C

Surrounding Variants

7 papers

NM_007294.4

p.A807S

c.2419G>T

1 paper

NM_007294.4

p.A807_F808ins10

c.2419_2423ins30

3 papers

NM_007294.4

p.A806insFs

c.2418dupA

5 papers

NM_007294.4

p.A807T

c.2419G>A

16 papers

NM_007294.4

p.A806delFs

c.2418delT

7 papers

NM_007294.4

p.A807fs

c.2419_2420fs

1 paper

NM_007294.4

p.A807V

c.2420C>T

4 papers

NM_007294.4

p.A807E

c.2420C>A

4 papers

NM_007294.4

p.A806V

c.2417C>T

2 papers

NM_007294.4

p.A806G

c.2417C>G

1 paper

NM_007294.4

p.Q804_A806delFs

c.2412_2416del5

1 paper

NM_007297.4

p.V755_C758del4

c.2263_2273del12