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

10 papers

NM_007294.4

p.G1100delFs

c.3300delT

Surrounding Variants

1 paper

NM_007294.4

p.S1101insFs

c.3301dupA

46 papers

NM_007294.4

p.S1101N

c.3302G>A

1 paper

NM_007294.4

p.G1100_S1101delFs

c.3300_3301delTT

1 paper

NM_007294.4

p.S1101fs

c.3301_3302fs

1 paper

NM_007294.4

p.S1101G

c.3301A>G

3 papers

NM_007294.4

p.S1101_N1102insC

c.3301_3305ins3

1 paper

NM_007294.4

p.L1098_G1100del3

c.3292_3299del9

4 papers

NM_007294.4

p.N1102Y

c.3304A>T

1 paper

NM_007294.4

p.G1100V

c.3299G>T

3 papers

NM_007294.4

p.G1100E

c.3299G>A

3 papers

NM_007294.4

p.N1102I

c.3305A>T

11 papers

NM_007294.4

p.N1102S

c.3305A>G