Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.D1778Splc

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
51 papers
NM_007294.4
p.D1778Splc
c.5333-1G>A
NM_007300.4
p.D1778N
c.5332G>A
Surrounding Variants
29 papers
NM_007294.4
p.D1778Y
c.5332G>T
18 papers
NM_007294.4
p.D1778Splc
c.5333-1G>C
10 papers
NM_007294.4
p.D1778fs
c.5332_5333fs
10 papers
NM_007294.4
p.D1778Splc
c.5333-2A>T
1 paper
NM_007294.4
p.D1778V
c.5333A>T
44 papers
NM_007294.4
p.D1778G
c.5333A>G
6 papers
NM_007294.4
p.D1778Splc
c.5333-2A>G
5 papers
NM_007294.4
p.D1778Splc
c.5333-2A>C
2 papers
NM_007294.4
p.D1778A
c.5333A>C
9 papers
NM_007294.4
p.D1778Splc
c.5333-3T>G
3 papers
NM_007294.4
p.D1778E
c.5334T>G
8 papers
NM_007294.4
p.D1778D
c.5334T>C
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