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

1 paper

NM_007294.4

p.Q1323P

c.3968A>C

Surrounding Variants

2 papers

NM_007294.4

p.Q1323delFs

c.3967delG

32 papers

NM_007294.4

p.Q1323*

c.3967C>T

1 paper

NM_007294.4

p.Q1323E

c.3967C>G

1 paper

NM_007294.4

p.K1322insFs

c.3965_3966insA

4 papers

NM_007294.4

p.K1322delFs

c.3966delT

2 papers

NM_007294.4

p.Q1323H

c.3969A>T

1 paper

NM_007294.4

p.Q1323H

c.3969A>C

1 paper

NM_007294.4

p.Q1323fs

c.3967_3968fs

7 papers

NM_007294.4

p.Q1323fs

c.3967_3968fs

1 paper

NM_007294.4

p.Q1323delFs

c.3967_3968delTG

2 papers

NM_007294.4

p.M1324fs

c.3970_3971fs

2 papers

NM_007294.4

p.M1324L

c.3970A>T