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

63 papers

NM_007294.4

p.M1783T

c.5348T>C

Surrounding Variants

4 papers

NM_007294.4

p.M1783R

c.5348T>G

5 papers

NM_007294.4

p.M1783K

c.5348T>A

1 paper

NM_007294.4

p.M1783delFs

c.5347delT

1 paper

NM_007294.4

p.E1781_M1783Fs

c.5343_5348delinsGFs

17 papers

NM_007294.4

p.M1783I

c.5349G>T

17 papers

NM_007294.4

p.M1783I

c.5349G>C

18 papers

NM_007294.4

p.M1783I

c.5349G>A

1 paper

NM_007294.4

p.M1783delFs

c.5348delA

1 paper

NM_007294.4

p.M1783fs

c.5347_5348fs

34 papers

NM_007294.4

p.M1783L

c.5347A>T

8 papers

NM_007294.4

p.M1783V

c.5347A>G

35 papers

NM_007294.4

p.M1783L

c.5347A>C