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.K935_D936del2

c.2803_2807del6

Surrounding Variants

1 paper

NM_007294.4

p.K937N

c.2811G>T

6 papers

NM_007294.4

p.K937insFs

c.2809_2810insA

1 paper

NM_007294.4

p.K937N

c.2811G>C

3 papers

NM_007294.4

p.P938S

c.2812C>T

1 paper

NM_007294.4

p.K937delFs

c.2810_2811delCT

30 papers

NM_007294.4

p.D936_K937delFs

c.2808_2811del4

1 paper

NM_007294.4

p.D936_K937del2

c.2806_2810del6

2 papers

NM_007294.4

p.K937R

c.2810A>G

1 paper

NM_007294.4

p.P938fs

c.2812_2813fs

1 paper

NM_007294.4

p.D936_K937delFs

c.2808_2809delTA

22 papers

NM_007294.4

p.K935_D936delFs

c.2805_2808del4

2 papers

NM_007294.4

p.P938L

c.2813C>T