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

10 papers

NM_007294.4

p.S398*

c.1193C>A

Surrounding Variants

3 papers

NM_007294.4

p.S398L

c.1193C>T

8 papers

NM_007294.4

p.S398*

c.1193C>G

1 paper

NM_007294.4

p.S398P

c.1192T>C

7 papers

NM_007294.4

p.D397delFs

c.1191delG

1 paper

NM_007294.4

p.S398fs

c.1192_1193fs

2 papers

NM_007294.4

p.S398delFs

c.1192_1193delGA

1 paper

NM_007294.4

p.H399Y

c.1195C>T

1 paper

NM_007294.4

p.D397D

c.1191C>T

1 paper

NM_007294.4

p.D397E

c.1191C>G

2 papers

NM_007294.4

p.D397E

c.1191C>A

5 papers

NM_007294.4

p.D397delFs

c.1190delT

1 paper

NM_007294.4

p.S398delFs

c.1194delT