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.E250D

c.750G>C

Surrounding Variants

1 paper

NM_007294.4

p.E250D

c.750G>T

1 paper

NM_007294.4

p.E250E

c.750G>A

3 papers

NM_007294.4

p.K251*

c.751A>T

1 paper

NM_007294.4

p.E250V

c.749A>T

3 papers

NM_007294.4

p.E250G

c.749A>G

2 papers

NM_007294.4

p.K251E

c.751A>G

1 paper

NM_007294.4

p.E250A

c.749A>C

1 paper

NM_007294.4

p.E250delFs

c.748delC

1 paper

NM_007294.4

p.T249_E250delFs

c.746_750del5

4 papers

NM_007294.4

p.E250*

c.748G>T

1 paper

NM_007294.4

p.E250Q

c.748G>C

2 papers

NM_007294.4

p.E250K

c.748G>A