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.A1617del1

c.4849_4850delAGC

Surrounding Variants

4 papers

NM_007300.4

p.H1639Y

c.4915C>T

NM_007294.4

p.H1618Y

c.4852C>T

1 paper

NM_007294.4

p.H1618N

c.4852C>A

1 paper

NM_007294.4

p.H1618R

c.4853A>G

1 paper

NM_007294.4

p.H1618Q

c.4854T>G

5 papers

NM_007294.4

p.H1618Q

c.4854T>A

4 papers

NM_007294.4

p.A1617D

c.4850C>A

2 papers

NM_007294.4

p.A1617T

c.4849G>A

2 papers

NM_007294.4

p.Q1612_A1616del5

c.4834_4847del15

5 papers

NM_007294.4

p.T1619A

c.4855A>G

6 papers

NM_007294.4

p.A1616A

c.4848T>C

5 papers

NM_007294.4

p.T1619I

c.4856C>T

1 paper

NM_007294.4

p.T1619insFs

c.4856_4857insTA