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.T1550A

c.4648A>G

Surrounding Variants

1 paper

NM_007294.4

p.T1550S

c.4648A>T

3 papers

NM_007294.4

p.T1550fs

c.4648_4649fs

11 papers

NM_007294.4

p.T1550I

c.4649C>T

2 papers

NM_007294.4

p.E1549_T1550insFs

c.4647_4648dupAA

2 papers

NM_007297.4

p.T1503K

c.4508C>A

NM_007294.4

p.T1550K

c.4649C>A

1 paper

NM_007294.4

p.E1549delFs

c.4647delT

1 paper

NM_007294.4

p.E1549D

c.4647A>T

2 papers

NM_007294.4

p.E1549D

c.4647A>C

1 paper

NM_007294.4

p.E1549insFs

c.4645_4646dupGA

3 papers

NM_007294.4

p.E1549V

c.4646A>T

1 paper

NM_007294.4

p.E1549insFs

c.4646_4647insGA

2 papers

NM_007294.4

p.T1550delFs

c.4650delT