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

12 papers

NM_007294.4

p.Y1666*

c.4998C>G

Surrounding Variants

4 papers

NM_007294.4

p.Y1666Y

c.4998C>T

1 paper

NM_007294.4

p.Y1666fs

c.4996_4997fs

10 papers

NM_007294.4

p.Y1666insFs

c.4997dupA

1 paper

NM_007294.4

p.Y1666insFs

c.4996_4997dupTA

13 papers

NM_007294.4

p.Y1666*

c.4998C>A

1 paper

NM_007294.4

p.Y1666delFs

c.4997delT

3 papers

NM_007294.4

p.K1667fs

c.4999_5000fs

6 papers

NM_007294.4

p.Y1666F

c.4997A>T

4 papers

NM_007294.4

p.K1667*

c.4999A>T

16 papers

NM_007294.4

p.Y1666C

c.4997A>G

12 papers

NM_007294.4

p.K1667E

c.4999A>G

6 papers

NM_007294.4

p.K1667Q

c.4999A>C