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

2 papers

NM_007294.4

p.N1592H

c.4774A>C

Surrounding Variants

1 paper

NM_007294.4

p.N1592fs

c.4774_4775fs

2 papers

NM_007300.4

p.N1613D

c.4837A>G

NM_007294.4

p.N1592D

c.4774A>G

2 papers

NM_007294.4

p.G1591delFs

c.4772_4773delGC

3 papers

NM_007294.4

p.N1592S

c.4775A>G

1 paper

NM_007294.4

p.G1591D

c.4772G>A

2 papers

NM_007294.4

p.G1591delins

c.4771_4772delinsAA

11 papers

NM_007294.4

p.N1592K

c.4776C>G

10 papers

NM_007294.4

p.N1592K

c.4776C>A

1 paper

NM_007294.4

p.G1591R

c.4771G>C

6 papers

NM_007294.4

p.G1591S

c.4771G>A

1 paper

NM_007294.4

p.S1587_V1590del4

c.4759_4769del12

2 papers

NM_007294.4

p.I1593L

c.4777A>T