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.Y414Y

c.1242C>T

Surrounding Variants

1 paper

NM_181349.3

p.R419Splc

c.1256+1265T>C

1 paper

NM_181349.3

p.I382M

c.1146C>G

1 paper

NM_181349.3

p.K357R

c.1070A>G

1 paper

NM_181349.3

p.K355R

c.1064A>G

1 paper

NM_181349.3

p.Y348S

c.1043A>C

1 paper

NM_181349.3

p.E341D

c.1023G>T

1 paper

NM_181349.3

p.E341D

c.1023G>C

1 paper

NM_181349.3

p.K324R

c.971A>G

1 paper

NM_181349.3

p.Y433S

c.1298A>C

1 paper

NM_181349.3

p.T441M

c.1322C>T

1 paper

NM_181349.3

p.S453A

c.1357T>G

1 paper

NM_181349.3

p.D310G

c.929A>G