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

4 papers

NM_007294.4

p.P1106delFs

c.3317delG

Surrounding Variants

31 papers

NM_007294.4

p.E1107*

c.3319G>T

1 paper

NM_007294.4

p.E1107_I1108insCT

c.3319_3323ins6

1 paper

NM_007294.4

p.E1107Q

c.3319G>C

1 paper

NM_007294.4

p.E1107K

c.3319G>A

3 papers

NM_007294.4

p.P1106L

c.3317C>T

2 papers

NM_007294.4

p.P1106fs

c.3316_3317fs

3 papers

NM_007294.4

p.P1106S

c.3316C>T

1 paper

NM_007294.4

p.P1106_E1107insTC

c.3316_3320ins6

4 papers

NM_007294.4

p.E1107G

c.3320A>G

1 paper

NM_007294.4

p.H1105fs

c.3313_3314fs

1 paper

NM_007294.4

p.K1104_H1105insFs

c.3311_3314dup4

1 paper

NM_007294.4

p.H1105delFs

c.3314delT