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.S186delFs

c.558delA

Surrounding Variants

1 paper

NM_007294.4

p.S187C

c.560C>G

1 paper

NM_007294.4

p.S186insFs

c.558dupT

1 paper

NM_007294.4

p.S187Y

c.560C>A

3 papers

NM_007294.4

p.S187_E188insA

c.559_563ins3

2 papers

NM_007294.4

p.D185_S186del2

c.553_557del6

1 paper

NM_007294.4

p.E188*

c.562G>T

1 paper

NM_007294.4

p.E188Q

c.562G>C

4 papers

NM_007294.4

p.E188K

c.562G>A

3 papers

NM_007294.4

p.S186F

c.557C>T

1 paper

NM_007294.4

p.S186C

c.557C>G

56 papers

NM_007294.4

p.S186Y

c.557C>A

4 papers

NM_007294.4

p.E188G

c.563A>G