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.E272fs

c.814_815fs

Surrounding Variants

1 paper

NM_007294.4

p.E272D

c.816G>T

1 paper

NM_007294.4

p.E272D

c.816G>C

5 papers

NM_007294.4

p.P273S

c.817C>T

1 paper

NM_007294.4

p.V271_E272del2

c.811_815del6

1 paper

NM_007294.4

p.E272V

c.815A>T

3 papers

NM_007294.4

p.E272G

c.815A>G

1 paper

NM_007294.4

p.E272A

c.815A>C

1 paper

NM_007294.4

p.E272delFs

c.814delC

8 papers

NM_007294.4

p.E272*

c.814G>T

8 papers

NM_007294.4

p.E272K

c.814G>A

1 paper

NM_007294.4

p.V271delFs

c.812_813delCA

1 paper

NM_007294.4

p.P273L

c.818C>T