Varaico: Literature-Extracted Genetic Variants

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

2 papers

NM_007294.4

p.P1614P

c.4842A>G

Surrounding Variants

1 paper

NM_007294.4

p.P1614insFs

c.4841dupC

1 paper

NM_007294.4

p.P1614delFs

c.4841delG

1 paper

NM_007294.4

p.A1615fs

c.4843_4844fs

20 papers

NM_007294.4

p.A1615T

c.4843G>A

4 papers

NM_007294.4

p.P1614L

c.4841C>T

1 paper

NM_007294.4

p.P1614R

c.4841C>G

1 paper

NM_007294.4

p.Q1612_S1613del2

c.4834_4838del6

33 papers

NM_007294.4

p.P1614S

c.4840C>T

1 paper

NM_007294.4

p.A1615V

c.4844C>T

3 papers

NM_007294.4

p.A1615insFs

c.4843dupG

6 papers

NM_007294.4

p.A1615D

c.4844C>A

3 papers

NM_007294.4

p.P1614fs

c.4840_4841fs