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.F885L

c.2653T>C

Surrounding Variants

1 paper

NM_007294.4

p.T884insFs

c.2652dupA

1 paper

NM_007294.4

p.E880_T884del5

c.2638_2651del15

1 paper

NM_007294.4

p.A878_F885delFs

c.2632_2653del22

1 paper

NM_007294.4

p.T884T

c.2652A>G

2 papers

NM_007294.4

p.T884I

c.2651C>T

1 paper

NM_007294.4

p.F885F

c.2655C>T

3 papers

NM_007294.4

p.F885L

c.2655C>G

2 papers

NM_007294.4

p.T884R

c.2651C>G

3 papers

NM_007294.4

p.F885L

c.2655C>A

1 paper

NM_007294.4

p.T884K

c.2651C>A

2 papers

NM_007294.4

p.A883_T884delFs

c.2649_2650delTT

1 paper

NM_007294.4

p.N877_T884del0

c.2630_2650del21