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

93 papers

NM_007294.4

p.N1355fs

c.4063_4064fs

Surrounding Variants

2 papers

NM_007294.4

p.N1355D

c.4063A>G

1 paper

NM_007294.4

p.N1354fs

c.4060_4061fs

1 paper

NM_007294.4

p.N1354K

c.4062T>G

1 paper

NM_007294.4

p.N1354K

c.4062T>A

1 paper

NM_007294.4

p.N1354delFs

c.4060_4061delTT

1 paper

NM_007294.4

p.N1354delins

c.4060_4062delinsGAA

5 papers

NM_007294.4

p.E1353_N1354delFs

c.4057_4061del5

1 paper

NM_007294.4

p.N1355S

c.4064A>G

53 papers

NM_007294.4

p.N1355fs

c.4063_4064fs

1 paper

NM_007294.4

p.N1355insFs

c.4064dupA

1 paper

NM_007294.4

p.N1355K

c.4065T>G

1 paper

NM_007294.4

p.N1355K

c.4065T>A