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

46 papers

NM_007294.4

p.R691delFs

c.2071delT

Surrounding Variants

2 papers

NM_007294.4

p.R691I

c.2072G>T

6 papers

NM_007294.4

p.R691insFs

c.2071_2072insA

1 paper

NM_007294.4

p.R691T

c.2072G>C

2 papers

NM_007294.4

p.R691K

c.2072G>A

8 papers

NM_007294.4

p.K690_R691delFs

c.2070_2071delTT

1 paper

NM_007294.4

p.N685_K690del6

c.2053_2069del18

1 paper

NM_007294.4

p.R691*

c.2071A>T

2 papers

NM_007294.4

p.R691G

c.2071A>G

1 paper

NM_007294.4

p.R691R

c.2073A>G

9 papers

NM_007294.4

p.R691fs

c.2071_2072fs

3 papers

NM_007294.4

p.R691delFs

c.2072delC

20 papers

NM_007294.4

p.R691fs

c.2071_2072fs