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

1 paper

NM_007294.4

p.S716fs

c.2146_2147fs

Surrounding Variants

1 paper

NM_007294.4

p.S716R

c.2146A>C

1 paper

NM_007294.4

p.S716_E717insT

c.2146_2150ins3

1 paper

NM_007294.4

p.S716N

c.2147G>A

4 papers

NM_007294.4

p.T715fs

c.2143_2144fs

1 paper

NM_007294.4

p.S716R

c.2148T>G

1 paper

NM_007294.4

p.S716R

c.2148T>A

2 papers

NM_007294.4

p.S716delFs

c.2147delC

1 paper

NM_007294.4

p.S716delFs

c.2146_2147delCT

5 papers

NM_007294.4

p.T715_S716delFs

c.2143_2147del5

1 paper

NM_007294.4

p.T715S

c.2144C>G

1 paper

NM_007294.4

p.N714_T715Fs

c.2142_2144delinsAGFs

4 papers

NM_007294.4

p.E717*

c.2149G>T