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

3 papers

NM_007294.4

p.Y1716delins

c.5146_5148delinsAAA

Surrounding Variants

1 paper

NM_007294.4

p.Y1716_F1717insFs

c.5148_5149insC

1 paper

NM_007294.4

p.Y1716insFs

c.5146_5147ins4

9 papers

NM_007294.4

p.Y1716*

c.5148T>G

8 papers

NM_007294.4

p.Y1716*

c.5148T>A

1 paper

NM_007294.4

p.S1715_Y1716delFs

c.5144_5147del4

1 paper

NM_007294.4

p.F1717_W1718insT

c.5149_5153ins3

3 papers

NM_007294.4

p.F1717V

c.5149T>G

4 papers

NM_007294.4

p.F1717L

c.5149T>C

3 papers

NM_007294.4

p.F1717I

c.5149T>A

1 paper

NM_007294.4

p.I1707_Y1716del10

c.5119_5147del30

2 papers

NM_007294.4

p.F1717fs

c.5149_5150fs

3 papers

NM_007294.4

p.Y1716F

c.5147A>T