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

5 papers

NM_007294.4

p.Q538fs

c.1612_1613fs

Surrounding Variants

36 papers

NM_007294.4

p.Q538*

c.1612C>T

3 papers

NM_007294.4

p.T536_N537delFs

c.1608_1611del4

2 papers

NM_007294.4

p.T536_N537del2

c.1606_1610del6

2 papers

NM_007294.4

p.N537N

c.1611C>T

2 papers

NM_007294.4

p.N537fs

c.1609_1610fs

6 papers

NM_007294.4

p.Q538R

c.1613A>G

5 papers

NM_007294.4

p.N537delFs

c.1611delG

1 paper

NM_007294.4

p.N537S

c.1610A>G

1 paper

NM_007294.4

p.Q538_T539insFs

c.1614_1615insC

1 paper

NM_007294.4

p.T536_N537delFs

c.1608_1609delTA

1 paper

NM_007294.4

p.Q538delFs

c.1612_1613delTG

2 papers

NM_007294.4

p.T539fs

c.1615_1616fs