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

11 papers

NM_007294.4

p.K1702E

c.5104A>G

Surrounding Variants

1 paper

NM_007294.4

p.K1702*

c.5104A>T

5 papers

NM_007294.4

p.K1702Q

c.5104A>C

15 papers

NM_007294.4

p.L1701delFs

c.5102_5103delCA

3 papers

NM_007294.4

p.K1702fs

c.5104_5105fs

4 papers

NM_007294.4

p.L1701fs

c.5101_5102fs

1 paper

NM_007294.4

p.L1701L

c.5103G>A

3 papers

NM_007294.4

p.L1701delFs

c.5102delA

5 papers

NM_007294.4

p.K1702I

c.5105A>T

6 papers

NM_007294.4

p.K1702R

c.5105A>G

6 papers

NM_007294.4

p.K1702T

c.5105A>C

1 paper

NM_007294.4

p.K1702delins

c.5104_5105delinsGC

1 paper

NM_007294.4

p.L1701_K1702delFs

c.5101_5104del4