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.P436insFs

c.1308dupT

Surrounding Variants

1 paper

NM_007294.4

p.H437fs

c.1309_1310fs

3 papers

NM_007294.4

p.H437Y

c.1309C>T

1 paper

NM_007294.4

p.D435_H437Fs

c.1303_1309delinsAAAGTFs

1 paper

NM_007294.4

p.S434_P436delFs

c.1301_1308del8

1 paper

NM_007294.4

p.S426_P436del11

c.1276_1307del33

2 papers

NM_007294.4

p.P436P

c.1308T>C

1 paper

NM_007294.4

p.P436P

c.1308T>A

2 papers

NM_007294.4

p.P436delFs

c.1307delG

2 papers

NM_007294.4

p.H437L

c.1310A>T

4 papers

NM_007294.4

p.H437R

c.1310A>G

5 papers

NM_007294.4

p.H437P

c.1310A>C

1 paper

NM_007294.4

p.H437delFs

c.1309delG