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.K943*

c.2827A>T

Surrounding Variants

1 paper

NM_007294.4

p.A942_K943insFs

c.2826_2827insAT

1 paper

NM_007294.4

p.A942V

c.2825C>T

1 paper

NM_007294.4

p.A942delins

c.2824_2825delinsAA

2 papers

NM_007294.4

p.C944R

c.2830T>C

2 papers

NM_007294.4

p.C944fs

c.2830_2831fs

1 paper

NM_007294.4

p.K943delFs

c.2828delT

1 paper

NM_007294.4

p.A942_K943delFs

c.2826_2829del4

1 paper

NM_007294.4

p.D940_C944delins

c.2820_2830delinsAAGATAAGCCAGTTTGATAA

2 papers

NM_007294.4

p.N941delFs

c.2823delA

2 papers

NM_007294.4

p.N941fs

c.2821_2822fs

1 paper

NM_007294.4

p.N941insFs

c.2822dupA

1 paper

NM_007294.4

p.N941insFs

c.2821_2822dupAA