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.I1061L

c.3181A>C

Surrounding Variants

2 papers

NM_007294.4

p.I1061L

c.3181A>T

6 papers

NM_007294.4

p.I1061V

c.3181A>G

1 paper

NM_007294.4

p.V1054_E1060ins2

c.3160_3180dup21

1 paper

NM_007294.4

p.I1061fs

c.3181_3182fs

2 papers

NM_007294.4

p.V1047_E1060del14

c.3139_3179del42

4 papers

NM_007294.4

p.E1060_I1061insFs

c.3180_3181insA

4 papers

NM_007294.4

p.I1061R

c.3182T>G

5 papers

NM_007294.4

p.I1061T

c.3182T>C

1 paper

NM_007294.4

p.I1061K

c.3182T>A

19 papers

NM_007294.4

p.I1061delFs

c.3181delT

NM_007297.4

p.E1060delFs

c.3179delT

1 paper

NM_007294.4

p.I1061I

c.3183A>T

15 papers

NM_007294.4

p.E1060A

c.3179A>C