Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E1257fs

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
55 papers
NM_007294.4
p.E1257fs
c.3769_3770fs
NM_007297.4
p.E1210fs
c.3628_3629fs
Surrounding Variants
3 papers
NM_007294.4
p.E1257*
c.3769G>T
18 papers
NM_007294.4
p.T1256_E1257insFs
c.3768_3769insA
NM_007297.4
p.T1209insFs
c.3627dupA
1 paper
NM_007294.4
p.T1256_E1257ins2
c.3768_3769ins6
1 paper
NM_007294.4
p.E1257Q
c.3769G>C
4 papers
NM_007294.4
p.E1257K
c.3769G>A
16 papers
NM_007294.4
p.T1256delFs
c.3767_3768delTG
1 paper
NM_007294.4
p.T1256T
c.3768A>G
4 papers
NM_007294.4
p.T1256fs
c.3766_3767fs
1 paper
NM_007294.4
p.E1257delFs
c.3769delC
1 paper
NM_007294.4
p.C1251_E1257delFs
c.3751_3769del19
2 papers
NM_007294.4
p.E1257D
c.3771G>T
36 papers
NM_007294.4
p.E1257fs
c.3769_3770fs
NM_007297.4
p.E1210fs
c.3628_3629fs
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