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

3 papers

NM_007294.4

p.I124L

c.370A>C

Surrounding Variants

1 paper

NM_007294.4

p.I124F

c.370A>T

29 papers

NM_007294.4

p.I124V

c.370A>G

1 paper

NM_007294.4

p.S123fs

c.367_368fs

1 paper

NM_007294.4

p.I124S

c.371T>G

2 papers

NM_007294.4

p.I124T

c.371T>C

2 papers

NM_007294.4

p.S123S

c.369T>A

4 papers

NM_007294.4

p.I124delFs

c.370delT

5 papers

NM_007294.4

p.S123F

c.368C>T

3 papers

NM_007294.4

p.I124M

c.372C>G

1 paper

NM_007294.4

p.S123C

c.368C>G

2 papers

NM_007294.4

p.S123insFs

c.367dupT

3 papers

NM_007294.4

p.I124I

c.372C>A