Varaico: Literature-Extracted Genetic Variants

SMURF1

110 papers

RefSeq Summary

This gene encodes a ubiquitin ligase that is specific for receptor-regulated SMAD proteins in the bone morphogenetic protein (BMP) pathway. This protein plays a key roll in the regulation of cell moti...

Pfam Domains

C2aa 13–116UCSCC2 domain

WWaa 236–265UCSCWW domain

WWaa 308–337UCSCWW domain

HECTaa 449–757UCSCHECT-domain (ubiquitin-transferase)

Gene Aliases

HGNC Name

SMAD specific E3 ubiquitin protein ligase 1

HGNC Alias Symbol

KIAA1625

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_181349.3

p.N272S

c.815A>G

Surrounding Variants

1 paper

NM_181349.3

p.E287K

c.859G>A

1 paper

NM_181349.3

p.S293T

c.877T>A

1 paper

NM_020429.3

p.R321R

c.961A>C

1 paper

NM_020429.3

p.R321R

c.963G>A

1 paper

NM_181349.3

p.I296K

c.887T>A

1 paper

NM_020429.3

p.D326E

c.978T>G

1 paper

NM_181349.3

p.T306A

c.916A>G

1 paper

NM_181349.3

p.F308Y

c.923T>A

1 paper

NM_181349.3

p.D310G

c.929A>G

1 paper

NM_181349.3

p.K324R

c.971A>G

1 paper

NM_181349.3

p.E341D

c.1023G>T

1 paper

NM_181349.3

p.E341D

c.1023G>C