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

62 papers

NM_007294.4

p.D67Y

c.199G>T

Surrounding Variants

1 paper

NM_007294.4

p.D67ins2

c.199_200ins6

9 papers

NM_007294.4

p.D67H

c.199G>C

13 papers

NM_007294.4

p.D67N

c.199G>A

1 paper

NM_007294.4

p.K65_N66del2

c.193_197del6

1 paper

NM_007294.4

p.C64_N66delFs

c.192_198del7

1 paper

NM_007294.4

p.L63_N66delFs

c.188_198del11

1 paper

NM_007294.4

p.N66insFs

c.196dupA

9 papers

NM_007294.4

p.N66K

c.198T>G

7 papers

NM_007294.4

p.N66N

c.198T>C

11 papers

NM_007294.4

p.N66K

c.198T>A

8 papers

NM_007294.4

p.D67V

c.200A>T

9 papers

NM_007294.4

p.D67G

c.200A>G