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

18 papers

NM_007294.4

p.G1348fs

c.4042_4043fs

Surrounding Variants

9 papers

NM_007294.4

p.G1348*

c.4042G>T

6 papers

NM_007294.4

p.E1346_R1347delFs

c.4038_4041del4

1 paper

NM_007294.4

p.G1348A

c.4043G>C

36 papers

NM_007294.4

p.R1347_G1348delFs

c.4041_4042delCT

1 paper

NM_007294.4

p.R1347R

c.4041A>G

2 papers

NM_007294.4

p.R1347fs

c.4039_4040fs

2 papers

NM_007294.4

p.R1347insFs

c.4039dupA

1 paper

NM_007294.4

p.R1347T

c.4040G>C

5 papers

NM_007294.4

p.R1347K

c.4040G>A

1 paper

NM_007294.4

p.E1346delFs

c.4037delT

6 papers

NM_007294.4

p.E1346_R1347delFs

c.4038_4039delTT

7 papers

NM_007294.4

p.G1348fs

c.4042_4043fs