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

1 paper

NM_007294.4

p.S1253S

c.3759T>G

Surrounding Variants

45 papers

NM_007294.4

p.S1253fs

c.3757_3758fs

1 paper

NM_007294.4

p.S1253S

c.3759T>A

2 papers

NM_007294.4

p.S1253Fs

c.3758_3759delinsAFs

9 papers

NM_007294.4

p.K1254fs

c.3760_3761fs

9 papers

NM_007294.4

p.S1253C

c.3758C>G

2 papers

NM_007294.4

p.S1253Y

c.3758C>A

1 paper

NM_007294.4

p.L1252_S1253delFs

c.3756_3757delAC

13 papers

NM_007294.4

p.K1254*

c.3760A>T

10 papers

NM_007294.4

p.K1254E

c.3760A>G

20 papers

NM_007294.4

p.S1253insFs

c.3759dupT

1 paper

NM_007294.4

p.K1254insFs

c.3760_3761insTT

1 paper

NM_007294.4

p.K1254_N1255insC

c.3760_3764ins3