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

27 papers

NM_007294.4

p.T1700A

c.5098A>G

Surrounding Variants

3 papers

NM_007294.4

p.T1700S

c.5098A>T

7 papers

NM_007294.4

p.T1700P

c.5098A>C

3 papers

NM_007294.4

p.T1700_L1701insA

c.5098_5102ins3

3 papers

NM_007294.4

p.T1700fs

c.5098_5099fs

1 paper

NM_007294.4

p.R1699R

c.5097G>C

8 papers

NM_007294.4

p.E1698_R1699delFs

c.5093_5096del4

13 papers

NM_007294.4

p.T1700I

c.5099C>T

3 papers

NM_007294.4

p.T1700R

c.5099C>G

3 papers

NM_007294.4

p.T1700K

c.5099C>A

6 papers

NM_007294.4

p.T1700delFs

c.5098delT

34 papers

NM_007294.4

p.R1699L

c.5096G>T

15 papers

NM_007294.4

p.R1699P

c.5096G>C