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.N916fs

c.2746_2747fs

Surrounding Variants

1 paper

NM_007294.4

p.N916insFs

c.2747dupA

2 papers

NM_007294.4

p.N916N

c.2748T>C

1 paper

NM_007294.4

p.N916K

c.2748T>A

1 paper

NM_007294.4

p.I917fs

c.2749_2750fs

2 papers

NM_007294.4

p.N916I

c.2747A>T

2 papers

NM_007294.4

p.N916S

c.2747A>G

1 paper

NM_007294.4

p.I917V

c.2749A>G

1 paper

NM_007294.4

p.N916T

c.2747A>C

1 paper

NM_007294.4

p.I917_K918ins4

c.2749_2753ins12

2 papers

NM_007294.4

p.N916delFs

c.2748delA

1 paper

NM_007294.4

p.S915_N916delFs

c.2745_2746delTA

1 paper

NM_007294.4

p.N913_N916delFs

c.2739_2746del8