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

3 papers

NM_007294.4

p.N16N

c.48T>C

Surrounding Variants

5 papers

NM_007294.4

p.N16fs

c.46_47fs

4 papers

NM_007294.4

p.N16insFs

c.47dupA

8 papers

NM_007294.4

p.N16K

c.48T>G

8 papers

NM_007294.4

p.N16K

c.48T>A

9 papers

NM_007294.4

p.R7_N16delFs

c.19_47del29

10 papers

NM_007294.4

p.A17S

c.49G>T

3 papers

NM_007294.4

p.A17insFs

c.49_50insT

8 papers

NM_007294.4

p.A17P

c.49G>C

11 papers

NM_007294.4

p.A17T

c.49G>A

8 papers

NM_007294.4

p.N16I

c.47A>T

9 papers

NM_007294.4

p.N16S

c.47A>G

6 papers

NM_007294.4

p.N16T

c.47A>C