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.P1594T

c.4780C>A

Surrounding Variants

1 paper

NM_007294.4

p.P1594S

c.4780C>T

1 paper

NM_007294.4

p.P1594A

c.4780C>G

1 paper

NM_007294.4

p.P1594fs

c.4780_4781fs

1 paper

NM_007294.4

p.P1594Q

c.4781C>A

1 paper

NM_007294.4

p.I1593M

c.4779A>G

2 papers

NM_007294.4

p.I1593I

c.4779A>C

3 papers

NM_007294.4

p.I1593T

c.4778T>C

1 paper

NM_007294.4

p.P1594fs

c.4780_4781fs

2 papers

NM_007300.4

p.P1615delFs

c.4843delG

NM_007294.4

p.P1594delFs

c.4780delG

1 paper

NM_007294.4

p.S1595A

c.4783T>G

1 paper

NM_007294.4

p.S1595P

c.4783T>C

2 papers

NM_007294.4

p.S1595fs

c.4783_4784fs