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

5 papers

NM_007294.4

p.A1368V

c.4103C>T

Surrounding Variants

1 paper

NM_007294.4

p.A1368G

c.4103C>G

1 paper

NM_007294.4

p.A1368delFs

c.4102delC

1 paper

NM_007294.4

p.A1368_A1369insA

c.4102_4106ins3

1 paper

NM_007294.4

p.A1368P

c.4102G>C

2 papers

NM_007294.4

p.A1368T

c.4102G>A

1 paper

NM_007294.4

p.A1369P

c.4105G>C

3 papers

NM_007294.4

p.A1369T

c.4105G>A

1 paper

NM_007294.4

p.E1367E

c.4101A>G

1 paper

NM_007294.4

p.E1367D

c.4101A>C

1 paper

NM_007294.4

p.A1369fs

c.4105_4106fs

2 papers

NM_007294.4

p.A1369E

c.4106C>A

2 papers

NM_007294.4

p.E1367G

c.4100A>G