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.Q780fs

c.2338_2339fs

Surrounding Variants

65 papers

NM_007294.4

p.Q780*

c.2338C>T

6 papers

NM_007294.4

p.Q780E

c.2338C>G

7 papers

NM_007294.4

p.Q780K

c.2338C>A

4 papers

NM_007294.4

p.Q780R

c.2339A>G

1 paper

NM_007294.4

p.T779_Q780delFs

c.2337_2338delGA

2 papers

NM_007294.4

p.Q780H

c.2340G>T

1 paper

NM_007294.4

p.Q780fs

c.2338_2339fs

2 papers

NM_007294.4

p.Q780H

c.2340G>C

1 paper

NM_007294.4

p.T779I

c.2336C>T

2 papers

NM_007294.4

p.T779N

c.2336C>A

1 paper

NM_007294.4

p.T779fs

c.2335_2336fs

7 papers

NM_007294.4

p.E781*

c.2341G>T