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

47 papers

NM_007294.4

p.I379M

c.1137T>G

Surrounding Variants

1 paper

NM_007294.4

p.I379I

c.1137T>A

113 papers

NM_007294.4

p.I379insFs

c.1135_1136insA

1 paper

NM_007294.4

p.I379T

c.1136T>C

1 paper

NM_007294.4

p.I379N

c.1136T>A

10 papers

NM_007294.4

p.I379delFs

c.1135delT

1 paper

NM_007294.4

p.S378_I379delFs

c.1132_1135del4

13 papers

NM_007294.4

p.Q380*

c.1138C>T

1 paper

NM_007294.4

p.Q380E

c.1138C>G

2 papers

NM_007294.4

p.I379F

c.1135A>T

4 papers

NM_007294.4

p.Q380R

c.1139A>G

2 papers

NM_007294.4

p.I379V

c.1135A>G

3 papers

NM_007294.4

p.Q380P

c.1139A>C