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.E362insFs

c.1084_1085insAC

Surrounding Variants

3 papers

NM_007294.4

p.S361_E362insFs

c.1083_1084insA

1 paper

NM_007294.4

p.E362Q

c.1084G>C

1 paper

NM_007294.4

p.E362K

c.1084G>A

2 papers

NM_007294.4

p.E362fs

c.1084_1085fs

1 paper

NM_007294.4

p.E362G

c.1085A>G

1 paper

NM_007294.4

p.S361S

c.1083A>G

2 papers

NM_007294.4

p.S361S

c.1083A>C

3 papers

NM_007294.4

p.S361fs

c.1081_1082fs

1 paper

NM_007294.4

p.E362insFs

c.1085_1086insCA

1 paper

NM_007294.4

p.S361delFs

c.1082delG

5 papers

NM_007294.4

p.E362D

c.1086G>T

1 paper

NM_007294.4

p.E362_N363insFs

c.1086_1087insT