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.Q491P

c.1472A>C

Surrounding Variants

4 papers

NM_007294.4

p.Q491R

c.1472A>G

1 paper

NM_007294.4

p.Q491delFs

c.1472delT

29 papers

NM_007294.4

p.Q491*

c.1471C>T

6 papers

NM_007294.4

p.Q491E

c.1471C>G

4 papers

NM_007294.4

p.Q491K

c.1471C>A

1 paper

NM_007294.4

p.I492L

c.1474A>T

2 papers

NM_007294.4

p.P490P

c.1470A>G

1 paper

NM_007294.4

p.Q491delFs

c.1473delC

4 papers

NM_007294.4

p.P490L

c.1469C>T

1 paper

NM_007294.4

p.P490Q

c.1469C>A

1 paper

NM_007294.4

p.E489_P490delFs

c.1467_1468delGC

1 paper

NM_007294.4

p.P490S

c.1468C>T