Varaico: Literature-Extracted Genetic Variants

ANKLE2

100 papers

RefSeq Summary

This gene encodes a member of the LEM family of inner nuclear membrane proteins. The encoded protein functions as a mitotic regulator through postmitotic formation of the nuclear envelope. Mutations i...

Pfam Domains

LEMaa 72–118UCSCLEM domain

Cauli_VIaa 212–250UCSCRibonuclease H1 N-terminal domain

Ankaa 412–444UCSCAnkyrin repeat

ANKLE2_3rdaa 476–580UCSCANKLE2 third alpha/beta domain

Gene Aliases

HGNC Name

ankyrin repeat and LEM domain containing 2

HGNC Previous Symbol

KIAA0692

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015114.3

p.L74R

c.221T>G

Surrounding Variants

1 paper

NM_015114.3

p.P77L

c.230C>T

1 paper

NM_015114.3

p.M63T

c.188T>C

1 paper

NM_015114.3

p.G61D

c.182G>A

1 paper

NM_015114.3

p.G88A

c.263G>C

1 paper

NM_015114.3

p.E103Q

c.307G>C

4 papers

NM_015114.3

p.A109P

c.325G>C

3 papers

NM_015114.3

p.H122Y

c.364C>T

1 paper

NM_015114.3

p.G143E

c.428G>A

3 papers

NM_015114.3

p.Q148E

c.442C>G

1 paper

NM_015114.3

p.A149S

c.445G>T

1 paper

NM_015114.3

p.S173C

c.518C>G

1 paper

NM_015114.3

p.P180P

c.540T>A