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

41 papers

NM_007294.4

p.C27Splc

c.80+1G>A

Surrounding Variants

10 papers

NM_007294.4

p.C27Splc

c.80+1G>T

5 papers

NM_007294.4

p.C27Splc

c.80+1G>C

1 paper

NM_007294.4

p.I26_C27delFs

c.76_80del5

17 papers

NM_007294.4

p.E23_C27delFs

c.69_79del11

5 papers

NM_007294.4

p.C27Splc

c.80+2T>G

3 papers

NM_007294.4

p.C27Splc

c.80+2T>C

4 papers

NM_007294.4

p.C27Splc

c.80+2T>A

1 paper

NM_007294.4

p.C27delFs

c.80delC

5 papers

NM_007294.4

p.C27F

c.80G>T

1 paper

NM_007294.4

p.C27insFs

c.80_81insT

4 papers

NM_007294.4

p.C27S

c.80G>C

10 papers

NM_007294.4

p.C27Y

c.80G>A