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

27 papers

NM_007294.4

p.S282fs

c.844_845fs

Surrounding Variants

1 paper

NM_007294.4

p.S282A

c.844T>G

1 paper

NM_007294.4

p.S282P

c.844T>C

1 paper

NM_007294.4

p.S281delFs

c.842_843delGC

4 papers

NM_007294.4

p.S282L

c.845C>T

5 papers

NM_007294.4

p.S282*

c.845C>G

3 papers

NM_007294.4

p.S281R

c.843C>G

3 papers

NM_007294.4

p.S281insFs

c.841_842dupAG

4 papers

NM_007294.4

p.S281fs

c.841_842fs

5 papers

NM_007294.4

p.S282*

c.845C>A

3 papers

NM_007294.4

p.S281R

c.843C>A

2 papers

NM_007294.4

p.L269_S281del13

c.805_842del39

3 papers

NM_007294.4

p.S281I

c.842G>T