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.E1092Fs

c.3275_3276delinsTFs

Surrounding Variants

1 paper

NM_007294.4

p.E1092D

c.3276G>T

1 paper

NM_007294.4

p.E1092fs

c.3274_3275fs

1 paper

NM_007294.4

p.E1092D

c.3276G>C

1 paper

NM_007294.4

p.E1092E

c.3276G>A

2 papers

NM_007294.4

p.V1093F

c.3277G>T

1 paper

NM_007294.4

p.E1092A

c.3275A>C

3 papers

NM_007294.4

p.V1093insFs

c.3277_3278insG

1 paper

NM_007294.4

p.V1093D

c.3278T>A

3 papers

NM_007294.4

p.V1093delFs

c.3277delC

1 paper

NM_007294.4

p.V1088_V1093delFs

c.3262_3277del16

14 papers

NM_007294.4

p.A1082_E1092del11

c.3244_3275del33

1 paper

NM_007294.4

p.E1092*

c.3274G>T