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

2 papers

NM_007294.4

p.N1016_E1017delins

c.3048_3049delinsGT

Surrounding Variants

21 papers

NM_007294.4

p.E1017*

c.3049G>T

1 paper

NM_007294.4

p.E1017_N1018insA

c.3049_3053ins3

2 papers

NM_007294.4

p.E1017Q

c.3049G>C

1 paper

NM_007294.4

p.N1016delFs

c.3048delA

1 paper

NM_007294.4

p.P1010_N1016del7

c.3028_3047del21

1 paper

NM_007294.4

p.N1016fs

c.3046_3047fs

3 papers

NM_007294.4

p.N1016K

c.3048T>G

3 papers

NM_007294.4

p.N1016K

c.3048T>A

5 papers

NM_007294.4

p.E1017G

c.3050A>G

1 paper

NM_007294.4

p.E1017A

c.3050A>C

1 paper

NM_007294.4

p.E1017ins2

c.3049_3050ins6

2 papers

NM_007294.4

p.G1015_N1016del2

c.3043_3047del6