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.F1226L

c.3676T>C

Surrounding Variants

2 papers

NM_007294.4

p.F1226V

c.3676T>G

1 paper

NM_007294.4

p.F1226S

c.3677T>C

1 paper

NM_007294.4

p.C1225fs

c.3673_3674fs

6 papers

NM_007294.4

p.C1225*

c.3675C>A

1 paper

NM_007294.4

p.C1225S

c.3674G>C

3 papers

NM_007294.4

p.F1226L

c.3678C>G

1 paper

NM_007294.4

p.F1226_Q1227insFs

c.3678_3679insT

1 paper

NM_007294.4

p.F1226fs

c.3676_3677fs

4 papers

NM_007294.4

p.F1226L

c.3678C>A

1 paper

NM_007294.4

p.F1226delFs

c.3677delA

2 papers

NM_007294.4

p.C1225G

c.3673T>G

1 paper

NM_007294.4

p.C1225S

c.3673T>A