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

3 papers

NM_007294.4

p.K1079*

c.3235A>T

Surrounding Variants

1 paper

NM_007294.4

p.K1079T

c.3236A>C

1 paper

NM_007294.4

p.P1078fs

c.3232_3233fs

1 paper

NM_007294.4

p.P1078R

c.3233C>G

1 paper

NM_007294.4

p.K1079N

c.3237A>C

1 paper

NM_007294.4

p.L1080_N1081insA

c.3238_3242ins3

1 paper

NM_007294.4

p.K1079insFs

c.3237dupA

2 papers

NM_007294.4

p.L1080V

c.3238T>G

2 papers

NM_007294.4

p.L1080L

c.3238T>C

1 paper

NM_007294.4

p.K1079delFs

c.3235delT

1 paper

NM_007294.4

p.L1080fs

c.3238_3239fs

2 papers

NM_007294.4

p.P1078A

c.3232C>G

2 papers

NM_007294.4

p.G1077delFs

c.3231delC