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.K109E

c.325A>G

Surrounding Variants

1 paper

NM_181349.3

p.G112R

c.334G>C

1 paper

NM_181349.3

p.G112R

c.334G>A

1 paper

NM_181349.3

p.S79I

c.236G>T

1 paper

NM_181349.3

p.R130C

c.388C>T

1 paper

NM_181349.3

p.R130H

c.389G>A

1 paper

NM_181349.3

p.R142G

c.424A>G

1 paper

NM_181349.3

p.S148A

c.442T>G

1 paper

NM_181349.3

p.E157G

c.470A>G

1 paper

NM_181349.3

p.L68L

c.202C>T

1 paper

NM_181349.3

p.V42L

c.124G>T

1 paper

NM_181349.3

p.V42L

c.124G>C

1 paper

NM_181349.3

p.R32K

c.95G>A