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

35 papers

NM_007294.4

p.N810Y

c.2428A>T

Surrounding Variants

3 papers

NM_007294.4

p.N810fs

c.2428_2429fs

1 paper

NM_007294.4

p.N810D

c.2428A>G

6 papers

NM_007294.4

p.N810S

c.2429A>G

3 papers

NM_007294.4

p.N810T

c.2429A>C

3 papers

NM_007294.4

p.A807_E809Fs

c.2420_2427delinsAATTTTTFs

1 paper

NM_007294.4

p.A806_N810Fs

c.2416_2429delinsTAGTCCFs

2 papers

NM_007294.4

p.N810N

c.2430C>T

2 papers

NM_007294.4

p.N810fs

c.2428_2429fs

6 papers

NM_007294.4

p.N810delFs

c.2429delT

1 paper

NM_007294.4

p.E809delFs

c.2426_2427delTT

8 papers

NM_007294.4

p.E809G

c.2426A>G

2 papers

NM_007294.4

p.E809*

c.2425G>T