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.N1468fs

c.4402_4403fs

Surrounding Variants

3 papers

NM_007294.4

p.N1468D

c.4402A>G

22 papers

NM_007294.4

p.N1468H

c.4402A>C

2 papers

NM_007294.4

p.Q1467delFs

c.4401delC

1 paper

NM_007294.4

p.Q1467H

c.4401G>T

2 papers

NM_007294.4

p.Q1467fs

c.4399_4400fs

1 paper

NM_007294.4

p.Q1467H

c.4401G>C

1 paper

NM_007294.4

p.Q1467Q

c.4401G>A

1 paper

NM_007294.4

p.Q1467delFs

c.4399_4400delTG

1 paper

NM_007294.4

p.I1465_Q1467delFs

c.4395_4399del5

1 paper

NM_007294.4

p.S1466_N1468delFs

c.4398_4402del5

1 paper

NM_007294.4

p.I1465_Q1467del3

c.4393_4400del9

1 paper

NM_007294.4

p.N1468K

c.4404T>G