Varaico: Literature-Extracted Genetic Variants

ANLN

177 papers

RefSeq Summary

This gene encodes an actin-binding protein that plays a role in cell growth and migration, and in cytokinesis. The encoded protein is thought to regulate actin cytoskeletal dynamics in podocytes, comp...

Pfam Domains

Anillin_Naa 142–229UCSCAnillin N-terminus

Anillin_Naa 428–506UCSCAnillin N-terminus

Anillinaa 800–953UCSCCell division protein anillin

PHaa 984–1107UCSCPH domain

Gene Aliases

HGNC Name

anillin, actin binding protein

HGNC Alias Symbols

ANILLIN; Scraps; scra

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_018685.5

p.T294_S295delins

c.881_884delinsCTTCTTC

Surrounding Variants

1 paper

NM_018685.5

p.P296ins1

c.886_887insTTC

1 paper

NM_018685.5

p.P318A

c.952C>G

1 paper

NM_018685.5

p.P324R

c.971C>G

1 paper

NM_018685.5

p.T337A

c.1009A>G

1 paper

NM_018685.5

p.S356F

c.1067C>T

1 paper

NM_018685.5

p.Q357E

c.1069C>G

1 paper

NM_018685.5

p.V283A

c.848T>C

2 papers

NM_018685.5

p.L273L

c.819A>G

1 paper

NM_018685.5

p.R247M

c.740G>T

2 papers

NM_018685.5

p.T232T

c.696C>T

1 paper

NM_018685.5

p.V226A

c.677T>C

1 paper

NM_018685.5

p.F220_S225delFs

c.658_673del16