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

16 papers

NM_007294.4

p.L392fs

c.1174_1175fs

Surrounding Variants

1 paper

NM_007294.4

p.L392L

c.1174C>T

2 papers

NM_007294.4

p.L392V

c.1174C>G

1 paper

NM_007294.4

p.E391insFs

c.1173dupA

3 papers

NM_007294.4

p.L392P

c.1175T>C

1 paper

NM_007294.4

p.L392Q

c.1175T>A

1 paper

NM_007294.4

p.L392delFs

c.1174delG

2 papers

NM_007294.4

p.E391E

c.1173A>G

1 paper

NM_007294.4

p.L392L

c.1176G>T

3 papers

NM_007294.4

p.L392fs

c.1174_1175fs

1 paper

NM_007294.4

p.L393L

c.1177T>C

1 paper

NM_007294.4

p.E391_L392del0

c.1171_1176del6

7 papers

NM_007294.4

p.E391*

c.1171G>T