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

71 papers

NM_007294.4

p.P1150S

c.3448C>T

Surrounding Variants

2 papers

NM_007294.4

p.P1150A

c.3448C>G

2 papers

NM_007294.4

p.P1150insFs

c.3448_3449insA

1 paper

NM_007294.4

p.P1150T

c.3448C>A

1 paper

NM_007294.4

p.T1149delFs

c.3447delT

1 paper

NM_007294.4

p.E1148_T1149del2

c.3442_3446del6

1 paper

NM_007294.4

p.S1147_T1149del3

c.3439_3446del9

2 papers

NM_007294.4

p.P1150L

c.3449C>T

7 papers

NM_007294.4

p.P1150R

c.3449C>G

13 papers

NM_007294.4

p.P1150insFs

c.3449_3450insA

2 papers

NM_007294.4

p.T1149_P1150delFs

c.3447_3448delGT

3 papers

NM_007294.4

p.P1150fs

c.3448_3449fs

2 papers

NM_007294.4

p.P1150delFs

c.3449delG