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

3 papers

NM_007294.4

p.K996Q

c.2986A>C

Surrounding Variants

2 papers

NM_007294.4

p.K996E

c.2986A>G

3 papers

NM_007294.4

p.K995N

c.2985G>T

2 papers

NM_007294.4

p.K995N

c.2985G>C

1 paper

NM_007294.4

p.K995delFs

c.2983_2984delTT

3 papers

NM_007294.4

p.K996R

c.2987A>G

7 papers

NM_007294.4

p.N997fs

c.2989_2990fs

2 papers

NM_007294.4

p.K995*

c.2983A>T

1 paper

NM_007294.4

p.K995E

c.2983A>G

4 papers

NM_007294.4

p.K995insFs

c.2983_2984insT

3 papers

NM_007294.4

p.K995_K996insG

c.2983_2987ins3

7 papers

NM_007294.4

p.C994delFs

c.2981_2982delAC

2 papers

NM_007294.4

p.C994fs

c.2980_2981fs