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.F517delFs

c.1551delA

Surrounding Variants

2 papers

NM_007294.4

p.I518F

c.1552A>T

1 paper

NM_007294.4

p.I518V

c.1552A>G

1 paper

NM_007294.4

p.E515_F517del3

c.1543_1550del9

1 paper

NM_007294.4

p.F517L

c.1551T>G

1 paper

NM_007294.4

p.I518T

c.1553T>C

1 paper

NM_007294.4

p.F517F

c.1551T>C

1 paper

NM_007294.4

p.F517L

c.1551T>A

2 papers

NM_007294.4

p.E515_F517delFs

c.1544_1550del7

1 paper

NM_007294.4

p.F517Fs

c.1550delinsCGFs

3 papers

NM_007294.4

p.F517Y

c.1550T>A

3 papers

NM_007294.4

p.P514_F517Fs

c.1542_1550delinsCGFs

1 paper

NM_007294.4

p.I518fs

c.1552_1553fs