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

45 papers

NM_007294.4

p.L392_S405delFs

c.1175_1214del40

Surrounding Variants

3 papers

NM_007294.4

p.S405S

c.1215A>G

5 papers

NM_007294.4

p.S405fs

c.1213_1214fs

2 papers

NM_007294.4

p.N406fs

c.1216_1217fs

24 papers

NM_007294.4

p.S405*

c.1214C>G

21 papers

NM_007294.4

p.S405*

c.1214C>A

2 papers

NM_007294.4

p.N406D

c.1216A>G

1 paper

NM_007294.4

p.S405delFs

c.1214_1215delTG

1 paper

NM_007294.4

p.L392_S405delFs

c.1175_1215del41

1 paper

NM_007294.4

p.L392_S405del14

c.1174_1214del42

1 paper

NM_007294.4

p.E404insFs

c.1211dupA

1 paper

NM_007294.4

p.S405P

c.1213T>C

2 papers

NM_007294.4

p.E404delFs

c.1211delT