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

9 papers

NM_007294.4

p.H1746Y

c.5236C>T

NM_007300.4

p.H1767Y

c.5299C>T

Surrounding Variants

16 papers

NM_007294.4

p.H1746D

c.5236C>G

23 papers

NM_007294.4

p.H1746N

c.5236C>A

2 papers

NM_007294.4

p.N1745del1

c.5233_5234delGTT

2 papers

NM_007294.4

p.H1746fs

c.5236_5237fs

6 papers

NM_007294.4

p.N1745K

c.5235C>G

1 paper

NM_007294.4

p.N1745fs

c.5233_5234fs

1 paper

NM_007294.4

p.N1745insFs

c.5234dupA

6 papers

NM_007294.4

p.N1745K

c.5235C>A

2 papers

NM_007294.4

p.N1745delins

c.5234_5235delinsGG

1 paper

NM_007294.4

p.N1745delFs

c.5234delT

6 papers

NM_007294.4

p.H1746L

c.5237A>T

6 papers

NM_007300.4

p.H1767R

c.5300A>G

NM_007294.4

p.H1746R

c.5237A>G