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

1–12 of 57 variants

26 papers

NM_181349.3

p.S233S

c.699C>A

3 papers

NM_181349.3

p.P237H

c.710C>A

2 papers

NM_181349.3

p.R468W

c.1402C>T

1 paper

NM_181349.3

p.M1insFs

c.2dupT

1 paper

NM_181349.3

p.L20F

c.60A>T

1 paper

NM_181349.3

p.L20F

c.60A>C

1 paper

NM_181349.3

p.R32K

c.95G>A

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.L68L

c.202C>T

1 paper

NM_181349.3

p.S79I

c.236G>T

1 paper

NM_181349.3

p.K109E

c.325A>G