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.T696insFs

c.2086_2087insG

Surrounding Variants

2 papers

NM_007294.4

p.T696fs

c.2086_2087fs

1 paper

NM_007294.4

p.T696S

c.2086A>T

4 papers

NM_007294.4

p.T696A

c.2086A>G

1 paper

NM_007294.4

p.D695fs

c.2083_2084fs

1 paper

NM_007294.4

p.T696I

c.2087C>T

5 papers

NM_007294.4

p.T696insFs

c.2086dupA

1 paper

NM_007294.4

p.D695_T696delFs

c.2083_2087del5

2 papers

NM_007294.4

p.D695G

c.2084A>G

1 paper

NM_007294.4

p.D695insFs

c.2084_2085insC

2 papers

NM_007294.4

p.S694_D695delFs

c.2082_2083delCG

1 paper

NM_007294.4

p.F697L

c.2089T>C

1 paper

NM_007294.4

p.T696del1

c.2086_2087delAGT