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

2 papers

NM_007294.4

p.E1329K

c.3985G>A

Surrounding Variants

1 paper

NM_007294.4

p.E1329*

c.3985G>T

1 paper

NM_007294.4

p.E1329Q

c.3985G>C

1 paper

NM_007294.4

p.E1329fs

c.3985_3986fs

2 papers

NM_007294.4

p.S1328fs

c.3982_3983fs

2 papers

NM_007294.4

p.E1329G

c.3986A>G

2 papers

NM_007294.4

p.S1328F

c.3983C>T

6 papers

NM_007294.4

p.S1328insFs

c.3982dupT

2 papers

NM_007294.4

p.S1328delFs

c.3982delA

2 papers

NM_007294.4

p.E1329D

c.3987A>T

1 paper

NM_007294.4

p.E1329E

c.3987A>G

1 paper

NM_007294.4

p.E1329Fs

c.3985_3987delinsTTTCFs

1 paper

NM_007294.4

p.S1328P

c.3982T>C