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

3 papers

NM_007294.4

p.Q1118fs

c.3352_3353fs

Surrounding Variants

8 papers

NM_007294.4

p.Q1118H

c.3354G>T

4 papers

NM_007294.4

p.V1116_Q1118insFs

c.3347_3353dup7

5 papers

NM_007294.4

p.Q1118H

c.3354G>C

2 papers

NM_007294.4

p.N1102_Q1118del0

c.3306_3353del48

9 papers

NM_007294.4

p.T1119S

c.3355A>T

1 paper

NM_007294.4

p.T1119_V1120ins4

c.3355_3359ins12

1 paper

NM_007294.4

p.Q1118insFs

c.3353_3354ins7

3 papers

NM_007294.4

p.Q1118fs

c.3352_3353fs

20 papers

NM_007294.4

p.Q1118*

c.3352C>T

1 paper

NM_007294.4

p.T1119I

c.3356C>T

10 papers

NM_007294.4

p.T1119S

c.3356C>G

2 papers

NM_007294.4

p.Q1118E

c.3352C>G