Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.K45R

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
8 papers
NM_007294.4
p.K45R
c.134A>G
Surrounding Variants
36 papers
NM_007294.4
p.K45Splc
c.135-1G>T
23 papers
NM_007294.4
p.K45Splc
c.135-1G>C
6 papers
NM_007294.4
p.K45Splc
c.135-1G>A
5 papers
NM_007294.4
p.K45I
c.134A>T
22 papers
NM_007294.4
p.K45T
c.134A>C
16 papers
NM_007294.4
p.K45N
c.135A>T
3 papers
NM_007294.4
p.K45Splc
c.135-2A>T
39 papers
NM_007294.4
p.K45Splc
c.135-2A>G
1 paper
NM_007294.4
p.K45K
c.135A>G
37 papers
NM_007294.4
p.K45Splc
c.135-2A>C
15 papers
NM_007294.4
p.K45N
c.135A>C
1 paper
NM_007294.4
p.K45_F46ins3
c.135_136ins9
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