Varaico: Literature-Extracted Genetic Variants

FMNL1

87 papers

RefSeq Summary

This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. An alternative splice variant has been described but its full...

Pfam Domains

Drf_GBDaa 27–172UCSCDiaphanous GTPase-binding Domain

Drf_GBDaa 203–281UCSCDiaphanous GTPase-binding Domain

Drf_FH3aa 286–453UCSCDiaphanous FH3 Domain

FH2aa 632–998UCSCFormin Homology 2 Domain

Gene Aliases

HGNC Name

formin like 1

HGNC Previous Symbol

C17orf1B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_005892.4

p.L202delFs

c.604delC

Surrounding Variants

1 paper

NM_005892.4

p.V185_D187del3

c.553_560del9

1 paper

NM_005892.4

p.S167delFs

c.499delA

1 paper

NM_005892.4

p.T162Splc

c.485+41C>A

1 paper

NM_005892.4

p.N144K

c.432C>A

1 paper

NM_005892.4

p.N144K

c.432C>G

1 paper

NM_005892.4

p.W135R

c.403T>A

1 paper

NM_005892.4

p.W135R

c.403T>C

1 paper

NM_005892.4

p.S117F

c.350C>T

1 paper

NM_005892.4

p.K111*

c.331A>T

1 paper

NM_005892.4

p.L87L

c.261G>A

1 paper

NM_005892.4

p.A81T

c.241G>A

1 paper

NM_005892.4

p.P79L

c.236C>T