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.L1392_T1393insC

c.4174_4178ins3

Surrounding Variants

3 papers

NM_007294.4

p.I1391M

c.4173T>G

2 papers

NM_007294.4

p.L1392*

c.4175T>G

4 papers

NM_007294.4

p.L1392S

c.4175T>C

2 papers

NM_007294.4

p.L1392*

c.4175T>A

1 paper

NM_007294.4

p.I1391S

c.4172T>G

6 papers

NM_007294.4

p.I1391T

c.4172T>C

6 papers

NM_007294.4

p.S1389_D1390del2

c.4165_4169del6

3 papers

NM_007294.4

p.L1392F

c.4176A>T

3 papers

NM_007294.4

p.L1392F

c.4176A>C

1 paper

NM_007294.4

p.I1391insFs

c.4172_4173insT

1 paper

NM_007294.4

p.L1392fs

c.4174_4175fs

2 papers

NM_007294.4

p.L1392delFs

c.4175delA