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.E1114G

c.3341A>G

Surrounding Variants

14 papers

NM_007294.4

p.E1114*

c.3340G>T

1 paper

NM_007294.4

p.E1114Q

c.3340G>C

2 papers

NM_007294.4

p.P1106_Y1113del0

c.3316_3339del24

1 paper

NM_007294.4

p.E1114fs

c.3340_3341fs

8 papers

NM_007294.4

p.Y1113_E1114del1

c.3339_3341delTCA

1 paper

NM_007294.4

p.S1101_E1112insFs

c.3303_3336dup34

15 papers

NM_007294.4

p.Y1113*

c.3339T>G

11 papers

NM_007294.4

p.Y1113*

c.3339T>A

14 papers

NM_007294.4

p.E1115*

c.3343G>T

1 paper

NM_007294.4

p.E1115_V1116insGG

c.3343_3347ins6

2 papers

NM_007294.4

p.E1115Q

c.3343G>C

2 papers

NM_007294.4

p.E1114delFs

c.3342delT