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.T688_S689delFs

c.2063_2066del4

Surrounding Variants

2 papers

NM_007294.4

p.S689R

c.2067T>G

2 papers

NM_007294.4

p.S689R

c.2067T>A

2 papers

NM_007294.4

p.S689N

c.2066G>A

2 papers

NM_007294.4

p.K690*

c.2068A>T

1 paper

NM_007294.4

p.K690E

c.2068A>G

3 papers

NM_007294.4

p.S689fs

c.2065_2066fs

9 papers

NM_007294.4

p.K690R

c.2069A>G

1 paper

NM_007294.4

p.S689G

c.2065A>G

2 papers

NM_007294.4

p.S689R

c.2065A>C

1 paper

NM_007294.4

p.Q687_T688delFs

c.2061_2064del4

2 papers

NM_007294.4

p.K690_R691insFs

c.2070_2071insT

1 paper

NM_007294.4

p.K690fs

c.2068_2069fs