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.E904ins2

c.2710_2711ins6

Surrounding Variants

10 papers

NM_007294.4

p.E904*

c.2710G>T

1 paper

NM_007294.4

p.E904_Q905insT

c.2710_2714ins3

1 paper

NM_007294.4

p.E904Q

c.2710G>C

3 papers

NM_007294.4

p.C903delFs

c.2709delA

1 paper

NM_007294.4

p.C903fs

c.2707_2708fs

16 papers

NM_007294.4

p.C903*

c.2709T>A

1 paper

NM_007294.4

p.E904G

c.2711A>G

1 paper

NM_007294.4

p.E904delFs

c.2710delC

4 papers

NM_007294.4

p.C903_E904delFs

c.2709_2710delCA

10 papers

NM_007294.4

p.E902_C903insFs

c.2706_2707dupAT

3 papers

NM_007294.4

p.C903S

c.2708G>C

1 paper

NM_007294.4

p.C903Y

c.2708G>A