Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.L290F

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
6 papers
NM_007294.4
p.L290F
c.870A>T
Surrounding Variants
2 papers
NM_007294.4
p.L290L
c.870A>G
2 papers
NM_007294.4
p.L290F
c.870A>C
1 paper
NM_007294.4
p.L290insFs
c.869_870insT
3 papers
NM_007294.4
p.L290fs
c.868_869fs
13 papers
NM_007294.4
p.L290delFs
c.869delA
1 paper
NM_007294.4
p.S289_L290delFs
c.866_869del4
1 paper
NM_007294.4
p.L291insFs
c.871_872insAC
2 papers
NM_007294.4
p.L290insFs
c.870dupA
3 papers
NM_007294.4
p.L290_L291insFs
c.870_871insAC
5 papers
NM_007294.4
p.L290*
c.869T>G
2 papers
NM_007294.4
p.L291V
c.871T>G
8 papers
NM_007294.4
p.L290S
c.869T>C
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