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.S177fs

c.529_530fs

Surrounding Variants

1 paper

NM_007294.4

p.S177_V178ins11

c.529_533ins33

1 paper

NM_007294.4

p.S177A

c.529T>G

1 paper

NM_007294.4

p.S177P

c.529T>C

6 papers

NM_007294.4

p.S177T

c.529T>A

2 papers

NM_007294.4

p.I171_T176del6

c.511_527del18

1 paper

NM_007294.4

p.Q169_T176del8

c.505_527del24

1 paper

NM_007294.4

p.T176fs

c.526_527fs

3 papers

NM_007294.4

p.T176T

c.528G>C

5 papers

NM_007294.4

p.T176T

c.528G>A

4 papers

NM_007294.4

p.T176delFs

c.527delG

3 papers

NM_007294.4

p.S177F

c.530C>T

2 papers

NM_007294.4

p.S177C

c.530C>G