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

83 papers

NM_007294.4

p.S1655F

c.4964C>T

NM_007300.4

p.S1676F

c.5027C>T

Surrounding Variants

8 papers

NM_007294.4

p.S1655C

c.4964C>G

8 papers

NM_007294.4

p.S1655Y

c.4964C>A

5 papers

NM_007294.4

p.S1655delFs

c.4963delA

1 paper

NM_007294.4

p.V1654delFs

c.4961_4962delCA

1 paper

NM_007294.4

p.V1654insFs

c.4962dupG

2 papers

NM_007294.4

p.S1655insFs

c.4964dupC

21 papers

NM_007294.4

p.S1655fs

c.4963_4964fs

27 papers

NM_007294.4

p.S1655A

c.4963T>G

20 papers

NM_007294.4

p.S1655P

c.4963T>C

8 papers

NM_007294.4

p.S1655T

c.4963T>A

1 paper

NM_007294.4

p.S1655Fs

c.4965delinsGAFs

28 papers

NM_007294.4

p.S1655fs

c.4963_4964fs