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

7 papers

NM_007294.4

p.K731_E732delFs

c.2192_2196del5

Surrounding Variants

6 papers

NM_007294.4

p.E733*

c.2197G>T

2 papers

NM_007294.4

p.E733K

c.2197G>A

3 papers

NM_007294.4

p.E732delFs

c.2196delT

4 papers

NM_007294.4

p.E733fs

c.2197_2198fs

4 papers

NM_007294.4

p.K731_E732delFs

c.2193_2196del4

1 paper

NM_007294.4

p.K731_E732del2

c.2191_2195del6

1 paper

NM_007294.4

p.E732E

c.2196A>G

2 papers

NM_007294.4

p.E733A

c.2198A>C

2 papers

NM_007294.4

p.E732fs

c.2194_2195fs

1 paper

NM_007294.4

p.E732Fs

c.2195_2196delinsGFs

1 paper

NM_007294.4

p.E730_E732delFs

c.2188_2195del8

1 paper

NM_007294.4

p.E733D

c.2199G>T