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

6 papers

NM_007294.4

p.P1315R

c.3944C>G

Surrounding Variants

1 paper

NM_007294.4

p.P1315L

c.3944C>T

4 papers

NM_007294.4

p.P1315H

c.3944C>A

2 papers

NM_007294.4

p.P1315S

c.3943C>T

1 paper

NM_007294.4

p.N1311_D1314del4

c.3931_3941del12

1 paper

NM_007294.4

p.L1303_D1314delFs

c.3908_3942del35

1 paper

NM_007294.4

p.F1316_L1317insTC

c.3946_3950ins6

2 papers

NM_007294.4

p.F1316L

c.3946T>C

1 paper

NM_007294.4

p.P1315del1

c.3943_3944delAGG

1 paper

NM_007294.4

p.D1314delFs

c.3941delT

4 papers

NM_007294.4

p.D1314V

c.3941A>T

3 papers

NM_007294.4

p.D1314G

c.3941A>G

3 papers

NM_007294.4

p.D1314insFs

c.3941_3942insT