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.K501fs

c.1501_1502fs

Surrounding Variants

1 paper

NM_007294.4

p.K501N

c.1503A>T

5 papers

NM_007294.4

p.K501K

c.1503A>G

2 papers

NM_007294.4

p.K501I

c.1502A>T

2 papers

NM_007294.4

p.K501T

c.1502A>C

51 papers

NM_007294.4

p.L502fs

c.1504_1505fs

12 papers

NM_007294.4

p.L502*

c.1505T>G

3 papers

NM_007294.4

p.L502S

c.1505T>C

10 papers

NM_007294.4

p.L502*

c.1505T>A

3 papers

NM_007294.4

p.T499_N500delFs

c.1497_1500del4

1 paper

NM_007294.4

p.K501*

c.1501A>T

4 papers

NM_007294.4

p.K501E

c.1501A>G

1 paper

NM_007294.4

p.N500_K501ins1

c.1500_1501insTTT