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

1 paper

NM_005892.4

p.A917V

c.2750C>T

Surrounding Variants

1 paper

NM_005892.4

p.E927Q

c.2779G>C

1 paper

NM_005892.4

p.A963T

c.2887G>A

1 paper

NM_005892.4

p.A866V

c.2597C>T

1 paper

NM_005892.4

p.E1001insFs

c.3003dupG

1 paper

NM_005892.4

p.G1017S

c.3049G>A

1 paper

NM_005892.4

p.P1029S

c.3085C>T

1 paper

NM_005892.4

p.K1030_S1031Splc

c.3091-4C>T

1 paper

NM_005892.4

p.P1038fs

c.3112_3113fs

1 paper

NM_005892.4

p.R1048Q

c.3143G>A

1 paper

NM_005892.4

p.P1054Q

c.3161C>A

1 paper

NM_005892.4

p.E1058fs

c.3172_3173fs

1 paper

NM_005892.4

p.E1058insFs

c.3173_3174ins4