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

339 papers

NM_007294.4

p.R1443*

c.4327C>T

Surrounding Variants

49 papers

NM_007294.4

p.R1443G

c.4327C>G

1 paper

NM_007294.4

p.R1443L

c.4328G>T

1 paper

NM_007294.4

p.L1442L

c.4326G>T

1 paper

NM_007294.4

p.R1443P

c.4328G>C

22 papers

NM_007294.4

p.R1443Q

c.4328G>A

1 paper

NM_007294.4

p.L1442Q

c.4325T>A

1 paper

NM_007294.4

p.R1443R

c.4329A>T

2 papers

NM_007294.4

p.R1443R

c.4329A>G

1 paper

NM_007294.4

p.N1444fs

c.4330_4331fs

1 paper

NM_007294.4

p.L1442_R1443insT

c.4324_4328ins3

1 paper

NM_007294.4

p.N1444H

c.4330A>C

1 paper

NM_007294.4

p.D1441_R1443delFs

c.4323_4329del7