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

Selected Variant

1 paper

NM_004799.4

p.N57D

c.169A>G

Surrounding Variants

1 paper

NM_004799.4

p.P67S

c.199C>T

1 paper

NM_004799.4

p.L40L

c.120A>T

1 paper

NM_004799.4

p.S77P

c.229T>C

1 paper

NM_004799.4

p.A78V

c.233C>T

1 paper

NM_004799.4

p.T34K

c.101C>A

1 paper

NM_004799.4

p.T34I

c.101C>T

1 paper

NM_004799.4

p.T81S

c.242C>G

1 paper

NM_004799.4

p.L31fs

c.91_92fs

1 paper

NM_004799.4

p.L31delFs

c.92delT

2 papers

NM_004799.4

p.S29C

c.86C>G

2 papers

NM_004799.4

p.V27A

c.80T>C

2 papers

NM_004799.4

p.A89V

c.266C>T