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

4 papers

NM_007294.4

p.I1061delFs

c.3183delT

Surrounding Variants

1 paper

NM_007294.4

p.G1062C

c.3184G>T

4 papers

NM_007294.4

p.G1062S

c.3184G>A

5 papers

NM_007294.4

p.G1062V

c.3185G>T

1 paper

NM_007294.4

p.I1061I

c.3183A>T

5 papers

NM_007294.4

p.I1061fs

c.3181_3182fs

1 paper

NM_007294.4

p.I1061delFs

c.3182delA

1 paper

NM_007294.4

p.I1061delins

c.3182delinsT

4 papers

NM_007294.4

p.E1060_I1061insFs

c.3180_3181insA

1 paper

NM_007294.4

p.G1062_S1063insFs

c.3186_3187insA

4 papers

NM_007294.4

p.I1061R

c.3182T>G

5 papers

NM_007294.4

p.I1061T

c.3182T>C

1 paper

NM_007294.4

p.I1061K

c.3182T>A