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.K595K

c.1785G>A

Surrounding Variants

1 paper

NM_181349.3

p.R563Q

c.1688G>A

1 paper

NM_020429.3

p.R564L

c.1691G>T

1 paper

NM_020429.3

p.R564Q

c.1691G>A

1 paper

NM_181349.3

p.E603_L604Splc

c.1810-1G>A

1 paper

NM_181349.3

p.R648W

c.1942A>T

1 paper

NM_181349.3

p.Q491delFs

c.1472_1473delCT

2 papers

NM_181349.3

p.R468W

c.1402C>T

1 paper

NM_181349.3

p.S453A

c.1357T>G

1 paper

NM_181349.3

p.T441M

c.1322C>T

1 paper

NM_181349.3

p.Y433S

c.1298A>C

1 paper

NM_181349.3

p.R702W

c.2104C>T

1 paper

NM_181349.3

p.E724K

c.2170G>A