Varaico: Literature-Extracted Genetic Variants

ZFYVE9

170 papers

RefSeq Summary

This gene encodes a double zinc finger motif-containing protein that participates in the transforming growth factor-beta (TGFB) signalling pathway. The encoded protein interacts directly with SMAD2 an...

Pfam Domains

FYVEaa 695–759UCSCFYVE zinc finger

SARAaa 773–811UCSCSmad anchor for receptor activation (SARA)

SARA_Caa 1048–1400UCSCSmad anchor for receptor activation-like, C-terminal

Gene Aliases

HGNC Name

zinc finger FYVE-type containing 9

HGNC Previous Symbol

MADHIP

Papers

RefSeq ID

Protein change

DNA change

1–12 of 143 variants

4 papers

NM_004799.4

p.Y120C

c.359A>G

4 papers

NM_004799.4

p.K134N

c.402G>C

4 papers

NM_004799.4

p.K134N

c.402G>T

3 papers

NM_004799.4

p.G446S

c.1336G>A

2 papers

NM_004799.4

p.V27A

c.80T>C

2 papers

NM_004799.4

p.S29C

c.86C>G

2 papers

NM_004799.4

p.A89V

c.266C>T

2 papers

NM_004799.4

p.C126S

c.376T>A

2 papers

NM_004799.4

p.P323L

c.968C>T

2 papers

NM_004799.4

p.F490S

c.1469T>C

2 papers

NM_004799.4

p.A567G

c.1700C>G

1 paper

NM_004799.4

p.N3insFs

c.7_8insT