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

4 papers

NM_007294.4

p.A1166V

c.3497C>T

Surrounding Variants

1 paper

NM_007294.4

p.A1166D

c.3497C>A

3 papers

NM_007294.4

p.A1166delFs

c.3496delC

1 paper

NM_007294.4

p.A1166fs

c.3496_3497fs

16 papers

NM_007294.4

p.S1164_F1165insFs

c.3492_3493insT

1 paper

NM_007294.4

p.A1166_E1167insT

c.3496_3500ins3

3 papers

NM_007294.4

p.A1166P

c.3496G>C

5 papers

NM_007294.4

p.F1165delFs

c.3494_3495delAA

1 paper

NM_007294.4

p.F1165fs

c.3493_3494fs

2 papers

NM_007294.4

p.F1165F

c.3495T>C

4 papers

NM_007294.4

p.E1167*

c.3499G>T

3 papers

NM_007294.4

p.E1167K

c.3499G>A

2 papers

NM_007294.4

p.F1165S

c.3494T>C