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

105 papers

NM_007294.4

p.I1824_Q1826delFs

c.5470_5477del8

NM_007300.4

p.I1845_Q1847delFs

c.5533_5540del8

Surrounding Variants

14 papers

NM_007294.4

p.Q1826H

c.5478G>T

1 paper

NM_007294.4

p.Q1826fs

c.5476_5477fs

13 papers

NM_007294.4

p.Q1826H

c.5478G>C

9 papers

NM_007294.4

p.Q1826L

c.5477A>T

2 papers

NM_007294.4

p.M1827L

c.5479A>T

7 papers

NM_007294.4

p.M1827V

c.5479A>G

1 paper

NM_007294.4

p.Q1826R

c.5477A>G

2 papers

NM_007294.4

p.M1827L

c.5479A>C

2 papers

NM_007294.4

p.Q1826P

c.5477A>C

1 paper

NM_007294.4

p.G1825_Q1826del0

c.5473_5478del6

1 paper

NM_007294.4

p.A1823_Q1826delFs

c.5468_5478del11

1 paper

NM_007294.4

p.M1827R

c.5480T>G