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

87 papers

NM_007294.4

p.P1749R

c.5246C>G

NM_007300.4

p.P1770R

c.5309C>G

Surrounding Variants

11 papers

NM_007300.4

p.P1770L

c.5309C>T

NM_007294.4

p.P1749L

c.5246C>T

7 papers

NM_007294.4

p.P1749Q

c.5246C>A

12 papers

NM_007294.4

p.P1749S

c.5245C>T

16 papers

NM_007294.4

p.P1749A

c.5245C>G

1 paper

NM_007294.4

p.G1748insFs

c.5244dupT

8 papers

NM_007294.4

p.P1749T

c.5245C>A

1 paper

NM_007294.4

p.P1749_K1750insFs

c.5247_5248insTC

1 paper

NM_007294.4

p.G1748_P1749insFs

c.5243_5246dup4

1 paper

NM_007294.4

p.P1749fs

c.5245_5246fs

1 paper

NM_007294.4

p.V1736_P1749Fs

c.5208_5247delinsTCFs

1 paper

NM_007294.4

p.G1748G

c.5244T>A

2 papers

NM_007294.4

p.G1748delFs

c.5243delC