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

13 papers

NM_007294.4

p.L974*

c.2921T>A

Surrounding Variants

8 papers

NM_007294.4

p.L974*

c.2921T>G

4 papers

NM_007294.4

p.L974S

c.2921T>C

2 papers

NM_007294.4

p.L974L

c.2920T>C

5 papers

NM_007294.4

p.L974delFs

c.2921delA

3 papers

NM_007294.4

p.L974fs

c.2920_2921fs

2 papers

NM_007294.4

p.L974delFs

c.2920_2921delAA

2 papers

NM_007294.4

p.G964_L973delFs

c.2890_2918del29

13 papers

NM_007294.4

p.Q975*

c.2923C>T

2 papers

NM_007294.4

p.Q975K

c.2923C>A

2 papers

NM_007294.4

p.L973R

c.2918T>G

2 papers

NM_007294.4

p.L973P

c.2918T>C

2 papers

NM_007294.4

p.L973delFs

c.2917delG