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

10 papers

NM_007294.4

p.S844T

c.2531G>C

Surrounding Variants

6 papers

NM_007294.4

p.S844N

c.2531G>A

1 paper

NM_007294.4

p.T843_S844delFs

c.2529_2530delTT

1 paper

NM_007294.4

p.S844fs

c.2530_2531fs

2 papers

NM_007294.4

p.S844delFs

c.2530_2531delCT

2 papers

NM_007294.4

p.S844G

c.2530A>G

1 paper

NM_007294.4

p.S844R

c.2530A>C

1 paper

NM_007294.4

p.S844insFs

c.2530_2531insC

1 paper

NM_007294.4

p.E842_T843del2

c.2524_2528del6

1 paper

NM_007294.4

p.I845R

c.2534T>G

4 papers

NM_007294.4

p.I845T

c.2534T>C

2 papers

NM_007294.4

p.T843R

c.2528C>G

2 papers

NM_007294.4

p.E842_T843insFs

c.2526_2527insA