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

3 papers

NM_007294.4

p.L1209fs

c.3625_3626fs

Surrounding Variants

3 papers

NM_007294.4

p.L1209F

c.3627A>T

1 paper

NM_007294.4

p.L1209F

c.3627A>C

1 paper

NM_007294.4

p.L1209insFs

c.3626dupT

22 papers

NM_007294.4

p.L1209delFs

c.3626delA

21 papers

NM_007294.4

p.L1209*

c.3626T>G

16 papers

NM_007294.4

p.L1209*

c.3626T>A

1 paper

NM_007294.4

p.K1207_L1209Fs

c.3621_3626delinsAAFs

1 paper

NM_007294.4

p.H1197_L1209Fs

c.3591_3626delinsAAFs

5 papers

NM_007294.4

p.E1210_S1211insCT

c.3628_3632ins6

92 papers

NM_007294.4

p.L1209insFs

c.3627dupA

3 papers

NM_007294.4

p.E1210Q

c.3628G>C

1 paper

NM_007294.4

p.E1210K

c.3628G>A