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

4 papers

NM_005892.4

p.P612del1

c.1834_1835delCCC

Surrounding Variants

1 paper

NM_005892.4

p.P602_P603ins1

c.1806_1807insCCG

4 papers

NM_005892.4

p.P603del1

c.1807_1808delCCG

1 paper

NM_005892.4

p.P595L

c.1784C>T

1 paper

NM_005892.4

p.P587P

c.1761A>C

1 paper

NM_005892.4

p.P587delFs

c.1760delC

1 paper

NM_005892.4

p.Q555*

c.1663C>T

1 paper

NM_005892.4

p.L650L

c.1948C>T

1 paper

NM_005892.4

p.T656T

c.1968C>T

1 paper

NM_005892.4

p.R490H

c.1469G>A

1 paper

NM_005892.4

p.I489I

c.1467C>T

1 paper

NM_005892.4

p.P462L

c.1385C>T

3 papers

NM_005892.4

p.P455A

c.1363C>G