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

187 papers

NM_007294.4

p.D693N

c.2077G>A

Surrounding Variants

5 papers

NM_007294.4

p.D693Y

c.2077G>T

1 paper

NM_007294.4

p.H692insFs

c.2076dupT

1 paper

NM_007294.4

p.H692insFs

c.2075_2076dupAT

3 papers

NM_007294.4

p.D693insFs

c.2077_2078insTA

1 paper

NM_007294.4

p.D693H

c.2077G>C

3 papers

NM_007294.4

p.D693Fs

c.2077delinsATAFs

1 paper

NM_007294.4

p.H692delFs

c.2076delA

4 papers

NM_007294.4

p.H692delFs

c.2075_2076delAT

2 papers

NM_007294.4

p.S689_H692del4

c.2065_2075del12

3 papers

NM_007294.4

p.D693fs

c.2077_2078fs

3 papers

NM_007294.4

p.H692fs

c.2074_2075fs

1 paper

NM_007294.4

p.H692Q

c.2076T>G