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.N363_P364del2

c.1087_1091del6

Surrounding Variants

2 papers

NM_007294.4

p.R365T

c.1094G>C

2 papers

NM_007294.4

p.R365K

c.1094G>A

3 papers

NM_007294.4

p.R365*

c.1093A>T

2 papers

NM_007294.4

p.R365S

c.1095A>T

3 papers

NM_007294.4

p.R365G

c.1093A>G

16 papers

NM_007294.4

p.R365R

c.1093A>C

22 papers

NM_007294.4

p.S361_P364delFs

c.1082_1092del11

1 paper

NM_007294.4

p.P364P

c.1092T>G

1 paper

NM_007294.4

p.P364P

c.1092T>C

2 papers

NM_007294.4

p.P364delFs

c.1091delG

5 papers

NM_007294.4

p.D366H

c.1096G>C

3 papers

NM_007294.4

p.D366N

c.1096G>A