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

1–12 of 77 variants

4 papers

NM_005892.4

p.P603del1

c.1807_1808delCCG

4 papers

NM_005892.4

p.P612del1

c.1834_1835delCCC

3 papers

NM_005892.4

p.P455A

c.1363C>G

2 papers

NM_005892.4

p.L202delFs

c.604delC

2 papers

NM_005892.4

p.G454_P455delins

c.1362_1363delinsCG

2 papers

NM_005892.4

p.R797C

c.2389C>T

1 paper

NM_005892.4

p.K20T

c.59A>C

1 paper

NM_005892.4

p.Q21delFs

c.62_63delAG

1 paper

NM_005892.4

p.K26R

c.77A>G

1 paper

NM_005892.4

p.M46I

c.138G>A

1 paper

NM_005892.4

p.M46I

c.138G>C

1 paper

NM_005892.4

p.M46I

c.138G>T