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

2 papers

NM_007294.4

p.Q1096E

c.3286C>G

Surrounding Variants

15 papers

NM_007294.4

p.Q1096*

c.3286C>T

3 papers

NM_007294.4

p.Q1096K

c.3286C>A

20 papers

NM_007294.4

p.K1095delFs

c.3285delT

1 paper

NM_007294.4

p.K1095del1

c.3283_3284delTTT

1 paper

NM_007294.4

p.Q1096fs

c.3286_3287fs

7 papers

NM_007294.4

p.Q1096R

c.3287A>G

2 papers

NM_007294.4

p.Q1096insFs

c.3286dupC

3 papers

NM_007294.4

p.K1095fs

c.3283_3284fs

5 papers

NM_007294.4

p.Q1096delFs

c.3286delG

2 papers

NM_007294.4

p.Q1096fs

c.3286_3287fs

1 paper

NM_007294.4

p.Y1094_K1095delFs

c.3282_3283delTA

1 paper

NM_007294.4

p.S1097fs

c.3289_3290fs