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

7 papers

NM_007294.4

p.I15M

c.45T>G

Surrounding Variants

3 papers

NM_007294.4

p.I15I

c.45T>C

1 paper

NM_007294.4

p.I15I

c.45T>A

2 papers

NM_007294.4

p.M1_V14del14

c.1_41del42

1 paper

NM_007294.4

p.I15insFs

c.44_45insA

1 paper

NM_007294.4

p.I15insFs

c.43_44ins13

8 papers

NM_007294.4

p.I15S

c.44T>G

25 papers

NM_007294.4

p.I15T

c.44T>C

6 papers

NM_007294.4

p.I15N

c.44T>A

1 paper

NM_007294.4

p.I15delFs

c.43delT

1 paper

NM_007294.4

p.N16fs

c.46_47fs

5 papers

NM_007294.4

p.N16Y

c.46A>T

6 papers

NM_007294.4

p.N16D

c.46A>G