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.T1561A

c.4681A>G

Surrounding Variants

1 paper

NM_007294.4

p.T1561fs

c.4681_4682fs

1 paper

NM_007294.4

p.T1561S

c.4681A>T

1 paper

NM_007294.4

p.T1561P

c.4681A>C

40 papers

NM_007294.4

p.T1561I

c.4682C>T

1 paper

NM_007294.4

p.T1561S

c.4682C>G

3 papers

NM_007294.4

p.T1561N

c.4682C>A

4 papers

NM_007294.4

p.T1561delFs

c.4681delT

1 paper

NM_007294.4

p.E1559delFs

c.4677delC

4 papers

NM_007294.4

p.G1560delFs

c.4678_4679delCC

6 papers

NM_007294.4

p.G1560V

c.4679G>T

3 papers

NM_007294.4

p.G1560E

c.4679G>A

2 papers

NM_007294.4

p.E1559_G1560del1

c.4676_4678delCCT