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

3 papers

NM_007294.4

p.C953delFs

c.2857delA

Surrounding Variants

1 paper

NM_007294.4

p.F952_C953ins15

c.2856_2857ins45

8 papers

NM_007294.4

p.F952_C953delFs

c.2856_2857delAA

2 papers

NM_007294.4

p.C953_L954insTG

c.2857_2861ins6

3 papers

NM_007294.4

p.C953R

c.2857T>C

1 paper

NM_007294.4

p.C953C

c.2859T>C

1 paper

NM_007294.4

p.L954L

c.2860C>T

1 paper

NM_007294.4

p.L954V

c.2860C>G

2 papers

NM_007294.4

p.L954_S955insGT

c.2860_2864ins6

3 papers

NM_007294.4

p.L954fs

c.2860_2861fs

1 paper

NM_007294.4

p.L954P

c.2861T>C

3 papers

NM_007294.4

p.L954delFs

c.2860delG

3 papers

NM_007294.4

p.F952fs

c.2854_2855fs