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

5 papers

NM_007294.4

p.E1004*

c.3010G>T

Surrounding Variants

1 paper

NM_007294.4

p.E1004_E1005ins5

c.3010_3014ins15

4 papers

NM_007294.4

p.E1004Q

c.3010G>C

20 papers

NM_007294.4

p.F1003delFs

c.3008_3009delAA

3 papers

NM_007294.4

p.F1003fs

c.3007_3008fs

1 paper

NM_007294.4

p.F1003L

c.3009T>G

1 paper

NM_007294.4

p.F1003L

c.3009T>A

2 papers

NM_007294.4

p.F1003S

c.3008T>C

1 paper

NM_007294.4

p.E1004fs

c.3010_3011fs

1 paper

NM_007294.4

p.E1004E

c.3012G>A

1 paper

NM_007294.4

p.F1003L

c.3007T>C

3 papers

NM_007294.4

p.E1005*

c.3013G>T

3 papers

NM_007294.4

p.E1005fs

c.3013_3014fs