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.N1819K

c.5457T>A

Surrounding Variants

2 papers

NM_007294.4

p.N1819K

c.5457T>G

1 paper

NM_007294.4

p.G1820C

c.5458G>T

1 paper

NM_007294.4

p.G1820R

c.5458G>C

8 papers

NM_007294.4

p.G1820S

c.5458G>A

1 paper

NM_007294.4

p.N1819I

c.5456A>T

28 papers

NM_007294.4

p.N1819S

c.5456A>G

1 paper

NM_007294.4

p.N1819T

c.5456A>C

1 paper

NM_007294.4

p.D1818_N1819insFs

c.5454_5455dupCA

1 paper

NM_007294.4

p.E1817_N1819delFs

c.5451_5455del5

1 paper

NM_007294.4

p.N1819fs

c.5455_5456fs

2 papers

NM_007294.4

p.G1820V

c.5459G>T

1 paper

NM_007294.4

p.G1820A

c.5459G>C