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

75 papers

NM_007294.4

p.D1778Splc

c.5332+1G>A

NM_007300.4

p.D1799Splc

c.5395+1G>A

Surrounding Variants

2 papers

NM_007294.4

p.D1778Splc

c.5332+1G>T

10 papers

NM_007294.4

p.D1778Splc

c.5332+1G>C

1 paper

NM_007294.4

p.P1771_D1778delFs

c.5311_5332del22

3 papers

NM_007294.4

p.D1778Splc

c.5332+2T>G

5 papers

NM_007294.4

p.D1778Splc

c.5332+2T>C

8 papers

NM_007294.4

p.D1778Splc

c.5332+2T>A

13 papers

NM_007294.4

p.D1778Y

c.5332G>T

40 papers

NM_007294.4

p.D1778N

c.5332G>A

1 paper

NM_007297.4

p.M1728_T1730del3

c.5182_5189del9

1 paper

NM_007294.4

p.N1774_T1777del4

c.5320_5330del12

2 papers

NM_007294.4

p.T1777T

c.5331A>T

1 paper

NM_007294.4

p.D1778Splc

c.5332+3A>T