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

4 papers

NM_007294.4

p.K467K

c.1401G>A

Surrounding Variants

1 paper

NM_007294.4

p.K467N

c.1401G>C

1 paper

NM_007294.4

p.K467delFs

c.1400delT

2 papers

NM_007294.4

p.K468fs

c.1402_1403fs

1 paper

NM_007294.4

p.K468*

c.1402A>T

6 papers

NM_007294.4

p.K467R

c.1400A>G

1 paper

NM_007294.4

p.K468E

c.1402A>G

1 paper

NM_007294.4

p.K468_A469ins11

c.1402_1406ins33

1 paper

NM_007294.4

p.R466_K467del2

c.1396_1400del6

3 papers

NM_007294.4

p.K467fs

c.1399_1400fs

32 papers

NM_007294.4

p.K467*

c.1399A>T

2 papers

NM_007294.4

p.K467E

c.1399A>G

1 paper

NM_007294.4

p.K467Q

c.1399A>C