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

206 papers

NM_007294.4

p.R1203*

c.3607C>T

Surrounding Variants

7 papers

NM_007294.4

p.R1203G

c.3607C>G

33 papers

NM_007294.4

p.R1203Q

c.3608G>A

1 paper

NM_007294.4

p.R1203delFs

c.3607delG

1 paper

NM_007294.4

p.Y1202Y

c.3606C>T

1 paper

NM_007294.4

p.Y1202*

c.3606C>G

1 paper

NM_007294.4

p.Y1202fs

c.3604_3605fs

2 papers

NM_007294.4

p.Y1202insFs

c.3605dupA

1 paper

NM_007294.4

p.Y1202*

c.3606C>A

1 paper

NM_007294.4

p.Y1202F

c.3605A>T

2 papers

NM_007294.4

p.Y1202C

c.3605A>G

2 papers

NM_007294.4

p.Y1202delFs

c.3604delA

1 paper

NM_007294.4

p.R1204_G1205insGG

c.3610_3614ins6