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

5 papers

NM_007294.4

p.H270R

c.809A>G

Surrounding Variants

1 paper

NM_007294.4

p.H270L

c.809A>T

2 papers

NM_007294.4

p.H270Q

c.810T>G

3 papers

NM_007294.4

p.H270Q

c.810T>A

8 papers

NM_007294.4

p.H270delFs

c.809delT

3 papers

NM_007294.4

p.H270fs

c.808_809fs

4 papers

NM_007294.4

p.H270Y

c.808C>T

10 papers

NM_007294.4

p.V271L

c.811G>T

2 papers

NM_007294.4

p.L269F

c.807G>T

2 papers

NM_007294.4

p.L269insFs

c.805dupT

1 paper

NM_007294.4

p.L269_H270insFs

c.807_808ins10

1 paper

NM_007294.4

p.L269_H270insFs

c.807_808ins10

1 paper

NM_007294.4

p.V271_E272insTA

c.811_815ins6