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.K898insFs

c.2692_2693insT

Surrounding Variants

7 papers

NM_007294.4

p.K898E

c.2692A>G

2 papers

NM_007294.4

p.P897P

c.2691A>G

1 paper

NM_007294.4

p.K898R

c.2693A>G

1 paper

NM_007294.4

p.K898insFs

c.2693_2694insT

11 papers

NM_007294.4

p.P897fs

c.2689_2690fs

4 papers

NM_007294.4

p.P897L

c.2690C>T

1 paper

NM_007294.4

p.P897insFs

c.2690_2691insA

3 papers

NM_007294.4

p.P897Q

c.2690C>A

13 papers

NM_007294.4

p.Q895_S896del2

c.2683_2687del6

1 paper

NM_007294.4

p.P897_K898delFs

c.2689_2693del5

2 papers

NM_007294.4

p.K893_K898del0

c.2679_2693del15

2 papers

NM_007294.4

p.S891_K898del0

c.2673_2693del21