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

41 papers

NM_007294.4

p.V1247I

c.3739G>A

Surrounding Variants

1 paper

NM_007294.4

p.V1247insFs

c.3739_3740insA

2 papers

NM_007294.4

p.H1244_T1246delFs

c.3731_3738del8

1 paper

NM_007294.4

p.Q1240_T1246del7

c.3718_3737del21

1 paper

NM_007294.4

p.V1247G

c.3740T>G

3 papers

NM_007294.4

p.T1246T

c.3738C>T

1 paper

NM_007294.4

p.T1246T

c.3738C>G

1 paper

NM_007294.4

p.T1246T

c.3738C>A

4 papers

NM_007294.4

p.V1247_A1248insFs

c.3741_3742insA

1 paper

NM_007294.4

p.V1247V

c.3741T>C

2 papers

NM_007294.4

p.S1241_V1247delFs

c.3722_3740del19

2 papers

NM_007294.4

p.T1246I

c.3737C>T

8 papers

NM_007294.4

p.T1246N

c.3737C>A