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

58 papers

NM_007294.4

p.R71Splc

c.212+1G>A

Surrounding Variants

47 papers

NM_007294.4

p.R71Splc

c.212+1G>T

11 papers

NM_007294.4

p.R71Splc

c.212+1G>C

2 papers

NM_007294.4

p.R71delFs

c.211_212delCT

2 papers

NM_007294.4

p.C64_R71delFs

c.190_212del23

1 paper

NM_007294.4

p.R71Splc

c.212+2T>G

19 papers

NM_007294.4

p.R71Splc

c.212+2T>C

4 papers

NM_007294.4

p.R71Splc

c.212+2T>A

1 paper

NM_007294.4

p.K55_R71del0

c.165_212del48

14 papers

NM_007294.4

p.R71M

c.212G>T

32 papers

NM_007294.4

p.R71insFs

c.211dupA

1 paper

NM_007294.4

p.K70_R71insFs

c.210_211dupAA

7 papers

NM_007294.4

p.R71T

c.212G>C