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

4 papers

NM_007294.4

p.K906delFs

c.2717delT

Surrounding Variants

1 paper

NM_007294.4

p.K906fs

c.2716_2717fs

1 paper

NM_007294.4

p.K906insFs

c.2716dupA

2 papers

NM_007294.4

p.K906K

c.2718G>A

6 papers

NM_007294.4

p.E907*

c.2719G>T

4 papers

NM_007294.4

p.E907K

c.2719G>A

1 paper

NM_007294.4

p.K906R

c.2717A>G

3 papers

NM_007294.4

p.E907fs

c.2719_2720fs

1 paper

NM_007294.4

p.K906fs

c.2716_2717fs

4 papers

NM_007294.4

p.K906*

c.2716A>T

4 papers

NM_007294.4

p.E907G

c.2720A>G

1 paper

NM_007294.4

p.K906E

c.2716A>G

2 papers

NM_007294.4

p.K906Q

c.2716A>C