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.E1213delFs

c.3637delC

Surrounding Variants

5 papers

NM_007294.4

p.E1213*

c.3637G>T

2 papers

NM_007294.4

p.E1213K

c.3637G>A

4 papers

NM_007294.4

p.E1213fs

c.3637_3638fs

2 papers

NM_007294.4

p.E1213delFs

c.3637_3638delTC

36 papers

NM_007294.4

p.E1214*

c.3640G>T

1 paper

NM_007294.4

p.E1214Q

c.3640G>C

43 papers

NM_007294.4

p.E1214K

c.3640G>A

1 paper

NM_007294.4

p.E1213delFs

c.3639delT

5 papers

NM_007294.4

p.S1212S

c.3636A>G

1 paper

NM_007294.4

p.S1212fs

c.3634_3635fs

1 paper

NM_007294.4

p.S1212L

c.3635C>T

5 papers

NM_007294.4

p.S1212*

c.3635C>G