Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.Q1388fs

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
9 papers
NM_007294.4
p.Q1388fs
c.4162_4163fs
Surrounding Variants
10 papers
NM_007294.4
p.Q1388*
c.4162C>T
1 paper
NM_007294.4
p.Q1388E
c.4162C>G
1 paper
NM_007294.4
p.Q1388insFs
c.4162_4163insTC
2 papers
NM_007294.4
p.S1387fs
c.4159_4160fs
5 papers
NM_007294.4
p.Q1388L
c.4163A>T
3 papers
NM_007294.4
p.Q1388R
c.4163A>G
4 papers
NM_007294.4
p.Q1388delFs
c.4162delG
20 papers
NM_007294.4
p.S1387_Q1388delFs
c.4161_4162delGA
24 papers
NM_007294.4
p.S1386_Q1388delFs
c.4158_4162del5
3 papers
NM_007294.4
p.Q1388fs
c.4162_4163fs
9 papers
NM_007294.4
p.Q1388insFs
c.4163dupA
1 paper
NM_007294.4
p.Q1388Q
c.4164G>A
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