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

43 papers

NM_007294.4

p.I1159_K1160delFs

c.3477_3480del4

Surrounding Variants

2 papers

NM_007294.4

p.E1161*

c.3481G>T

3 papers

NM_007294.4

p.E1161K

c.3481G>A

1 paper

NM_007294.4

p.I1159_K1160del2

c.3475_3479del6

27 papers

NM_007294.4

p.E1161fs

c.3481_3482fs

3 papers

NM_007294.4

p.K1160delFs

c.3479delT

1 paper

NM_007294.4

p.K1160delFs

c.3478_3479delTT

2 papers

NM_007294.4

p.E1161G

c.3482A>G

2 papers

NM_007294.4

p.E1161A

c.3482A>C

1 paper

NM_007294.4

p.K1160M

c.3479A>T

2 papers

NM_007294.4

p.K1160T

c.3479A>C

16 papers

NM_007294.4

p.E1161fs

c.3481_3482fs

1 paper

NM_007294.4

p.E1161delFs

c.3481_3482delTC