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

2 papers

NM_007294.4

p.E479G

c.1436A>G

Surrounding Variants

1 paper

NM_007294.4

p.E479A

c.1436A>C

1 paper

NM_007294.4

p.E479insFs

c.1436_1437insC

2 papers

NM_007294.4

p.T478_E479delFs

c.1434_1435delCA

1 paper

NM_007294.4

p.E479Q

c.1435G>C

2 papers

NM_007294.4

p.E479K

c.1435G>A

1 paper

NM_007294.4

p.T478delFs

c.1434delA

1 paper

NM_007294.4

p.E479fs

c.1435_1436fs

1 paper

NM_007294.4

p.T478T

c.1434T>G

1 paper

NM_007294.4

p.T478delFs

c.1433delG

1 paper

NM_007294.4

p.T478delFs

c.1432_1433delGT

3 papers

NM_007294.4

p.H476_T478delFs

c.1426_1433del8

4 papers

NM_007294.4

p.N480fs

c.1438_1439fs