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.P1812L

c.5435C>T

Surrounding Variants

8 papers

NM_007294.4

p.P1812R

c.5435C>G

1 paper

NM_007294.4

p.P1812Q

c.5435C>A

9 papers

NM_007294.4

p.P1812S

c.5434C>T

67 papers

NM_007294.4

p.P1812A

c.5434C>G

1 paper

NM_007294.4

p.P1812_D1813insC

c.5434_5438ins3

3 papers

NM_007294.4

p.P1812T

c.5434C>A

1 paper

NM_007294.4

p.V1809_Q1811delFs

c.5427_5433del7

1 paper

NM_007294.4

p.P1812P

c.5436A>T

1 paper

NM_007294.4

p.P1812P

c.5436A>G

1 paper

NM_007294.4

p.P1812P

c.5436A>C

1 paper

NM_007294.4

p.D1813fs

c.5437_5438fs

3 papers

NM_007294.4

p.D1813Y

c.5437G>T