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

52 papers

NM_007294.4

p.L1764P

c.5291T>C

Surrounding Variants

1 paper

NM_007294.4

p.L1764insFs

c.5291_5292insA

1 paper

NM_007294.4

p.L1764Q

c.5291T>A

1 paper

NM_007294.4

p.L1764delFs

c.5290delG

2 papers

NM_007300.4

p.L1785L

c.5353C>T

NM_007294.4

p.L1764L

c.5290C>T

2 papers

NM_007294.4

p.L1764V

c.5290C>G

7 papers

NM_007294.4

p.R1762insFs

c.5285_5286insG

5 papers

NM_007294.4

p.L1764I

c.5290C>A

12 papers

NM_007294.4

p.G1763delFs

c.5289delC

1 paper

NM_007294.4

p.R1762_G1763delFs

c.5286_5287delCC

1 paper

NM_007294.4

p.R1762_G1763del2

c.5284_5288del6

1 paper

NM_007294.4

p.L1764insFs

c.5291_5292insTC

1 paper

NM_007294.4

p.L1764fs

c.5290_5291fs