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

1 paper

NM_007294.4

p.K1207K

c.3621G>A

Surrounding Variants

7 papers

NM_007294.4

p.K1207N

c.3621G>T

2 papers

NM_007294.4

p.K1207insFs

c.3620dupA

7 papers

NM_007294.4

p.K1207N

c.3621G>C

2 papers

NM_007294.4

p.K1207M

c.3620A>T

1 paper

NM_007294.4

p.K1208*

c.3622A>T

5 papers

NM_007294.4

p.K1208E

c.3622A>G

1 paper

NM_007294.4

p.K1207R

c.3620A>G

1 paper

NM_007294.4

p.K1207_K1208delins

c.3621_3622delinsAG

2 papers

NM_007294.4

p.K1207delFs

c.3621delC

1 paper

NM_007294.4

p.Q1200_K1207delFs

c.3600_3619del20

4 papers

NM_007294.4

p.K1208fs

c.3622_3623fs

2 papers

NM_007294.4

p.K1207*

c.3619A>T