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

4 papers

NM_007294.4

p.N417fs

c.1249_1250fs

Surrounding Variants

1 paper

NM_007294.4

p.L416_N417insFs

c.1248_1249insA

6 papers

NM_007294.4

p.N417K

c.1251T>G

4 papers

NM_007294.4

p.N417N

c.1251T>C

6 papers

NM_007294.4

p.N417K

c.1251T>A

28 papers

NM_007294.4

p.E418*

c.1252G>T

1 paper

NM_007294.4

p.E418Q

c.1252G>C

5 papers

NM_007294.4

p.E418K

c.1252G>A

3 papers

NM_007294.4

p.N417delFs

c.1251delA

1 paper

NM_007294.4

p.N417_E418Fs

c.1251_1252delinsAFs

1 paper

NM_007294.4

p.N417del1

c.1249_1250delATT

1 paper

NM_007294.4

p.E418fs

c.1252_1253fs

25 papers

NM_007294.4

p.N417S

c.1250A>G