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

1 paper

NM_007294.4

p.K527R

c.1580A>G

Surrounding Variants

2 papers

NM_007294.4

p.K527M

c.1580A>T

1 paper

NM_007294.4

p.K527T

c.1580A>C

8 papers

NM_007294.4

p.K527N

c.1581G>T

2 papers

NM_007294.4

p.K527fs

c.1579_1580fs

1 paper

NM_007294.4

p.K527_T528insFs

c.1581_1582insA

10 papers

NM_007294.4

p.K527N

c.1581G>C

1 paper

NM_007294.4

p.K527K

c.1581G>A

7 papers

NM_007294.4

p.K527delFs

c.1579_1580delTT

1 paper

NM_007294.4

p.K527fs

c.1579_1580fs

1 paper

NM_007294.4

p.K527Q

c.1579A>C

3 papers

NM_007294.4

p.T528fs

c.1582_1583fs

2 papers

NM_007294.4

p.T528A

c.1582A>G