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.N1309N

c.3927T>C

Surrounding Variants

2 papers

NM_007294.4

p.N1309delFs

c.3926delT

3 papers

NM_007294.4

p.T1310S

c.3928A>T

2 papers

NM_007294.4

p.N1309I

c.3926A>T

1 paper

NM_007294.4

p.N1309S

c.3926A>G

1 paper

NM_007294.4

p.A1308_T1310Fs

c.3924_3928delinsGFs

1 paper

NM_007294.4

p.A1308_N1309del2

c.3922_3926del6

3 papers

NM_007294.4

p.L1303_N1309del7

c.3907_3926del21

5 papers

NM_007294.4

p.T1310fs

c.3928_3929fs

2 papers

NM_007294.4

p.T1307_A1308del2

c.3919_3923del6

1 paper

NM_007294.4

p.S1301_A1308del8

c.3901_3923del24

3 papers

NM_007294.4

p.N1309fs

c.3925_3926fs

4 papers

NM_007294.4

p.T1310I

c.3929C>T