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.E384G

c.1151A>G

Surrounding Variants

1 paper

NM_007294.4

p.E384A

c.1151A>C

4 papers

NM_007294.4

p.E384*

c.1150G>T

1 paper

NM_007294.4

p.E384Q

c.1150G>C

1 paper

NM_007294.4

p.E384E

c.1152G>A

4 papers

NM_007294.4

p.N383delFs

c.1148_1149delAT

1 paper

NM_007294.4

p.N383del1

c.1147_1149delATT

1 paper

NM_007294.4

p.E384insFs

c.1152dupG

1 paper

NM_007294.4

p.N383insFs

c.1147dupA

1 paper

NM_007294.4

p.N383K

c.1149T>G

1 paper

NM_007294.4

p.W385R

c.1153T>C

1 paper

NM_007294.4

p.N383K

c.1149T>A

2 papers

NM_007294.4

p.N383delFs

c.1148delT