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.D1840N

c.5518G>A

Surrounding Variants

3 papers

NM_007294.4

p.D1840Y

c.5518G>T

1 paper

NM_007294.4

p.D1840_S1841insTT

c.5518_5522ins6

2 papers

NM_007294.4

p.D1840fs

c.5518_5519fs

3 papers

NM_007294.4

p.L1839F

c.5517G>T

1 paper

NM_007294.4

p.L1839_D1840insFs

c.5517_5518insC

2 papers

NM_007294.4

p.L1839F

c.5517G>C

1 paper

NM_007294.4

p.E1836_L1839Fs

c.5506_5517delinsAFs

3 papers

NM_007294.4

p.D1840A

c.5519A>C

1 paper

NM_007294.4

p.D1840delins

c.5518_5519delinsCC

3 papers

NM_007294.4

p.D1840delFs

c.5518delC

21 papers

NM_007294.4

p.L1839S

c.5516T>C

1 paper

NM_007294.4

p.D1840fs

c.5518_5519fs