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.C355Y

c.1064G>A

Surrounding Variants

1 paper

NM_004799.4

p.R351W

c.1051A>T

1 paper

NM_004799.4

p.N347S

c.1040A>G

1 paper

NM_004799.4

p.V367F

c.1099G>T

1 paper

NM_004799.4

p.A369_D370delFs

c.1106_1110del5

1 paper

NM_004799.4

p.L340L

c.1020T>A

2 papers

NM_004799.4

p.P323L

c.968C>T

1 paper

NM_004799.4

p.H392R

c.1175A>G

1 paper

NM_004799.4

p.H312H

c.936C>T

1 paper

NM_004799.4

p.W402*

c.1205G>A

1 paper

NM_004799.4

p.W402*

c.1206G>A

1 paper

NM_004799.4

p.L404M

c.1210T>A

1 paper

NM_004799.4

p.D412G

c.1235A>G