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.I1529fs

c.4585_4586fs

Surrounding Variants

1 paper

NM_007294.4

p.I1529_K1530insFs

c.4587_4588insA

2 papers

NM_007294.4

p.I1529insFs

c.4585dupA

4 papers

NM_007294.4

p.Q1525_I1529delFs

c.4575_4585del11

2 papers

NM_007294.4

p.K1530fs

c.4588_4589fs

1 paper

NM_007294.4

p.K1530*

c.4588A>T

1 paper

NM_007294.4

p.K1530E

c.4588A>G

1 paper

NM_007294.4

p.I1529insFs

c.4586dupT

1 paper

NM_007294.4

p.L1528_I1529del2

c.4582_4586del6

3 papers

NM_007294.4

p.I1529fs

c.4585_4586fs

1 paper

NM_007294.4

p.K1530M

c.4589A>T

17 papers

NM_007294.4

p.I1529V

c.4585A>G

3 papers

NM_007294.4

p.K1530R

c.4589A>G