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.D1362N

c.4084G>A

Surrounding Variants

1 paper

NM_007294.4

p.D1362fs

c.4084_4085fs

1 paper

NM_007294.4

p.D1362_S1363insA

c.4084_4088ins3

24 papers

NM_007294.4

p.S1360_M1361del2

c.4078_4082del6

3 papers

NM_007294.4

p.M1361I

c.4083G>T

3 papers

NM_007294.4

p.M1361I

c.4083G>C

4 papers

NM_007294.4

p.M1361I

c.4083G>A

4 papers

NM_007294.4

p.M1361delFs

c.4081_4082delAT

2 papers

NM_007294.4

p.D1362G

c.4085A>G

1 paper

NM_007294.4

p.D1362insFs

c.4085_4086ins11

1 paper

NM_007294.4

p.D1362fs

c.4084_4085fs

3 papers

NM_007294.4

p.M1361insFs

c.4081_4082insA

1 paper

NM_007294.4

p.D1362insFs

c.4085dupA