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

4 papers

NM_007294.4

p.M128I

c.384G>T

Surrounding Variants

1 paper

NM_007294.4

p.M128fs

c.382_383fs

4 papers

NM_007294.4

p.M128I

c.384G>C

5 papers

NM_007294.4

p.M128I

c.384G>A

1 paper

NM_007294.4

p.M128insFs

c.382dupA

2 papers

NM_007294.4

p.M128R

c.383T>G

4 papers

NM_007294.4

p.M128T

c.383T>C

3 papers

NM_007294.4

p.M128K

c.383T>A

2 papers

NM_007294.4

p.G129C

c.385G>T

1 paper

NM_007294.4

p.G129R

c.385G>C

3 papers

NM_007294.4

p.G129S

c.385G>A

4 papers

NM_007294.4

p.M128_G129Fs

c.384_385delinsCFs

1 paper

NM_007294.4

p.S127_M128del2

c.379_383del6