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

4 papers

NM_015114.3

p.V229G

c.686T>G

Surrounding Variants

2 papers

NM_015114.3

p.R236*

c.706C>T

1 paper

NM_015114.3

p.E214insFs

c.642dupA

1 paper

NM_015114.3

p.P266T

c.796C>A

1 paper

NM_015114.3

p.D283Splc

c.847+7C>G

1 paper

NM_015114.3

p.D283Splc

c.848-32G>C

1 paper

NM_015114.3

p.T292insFs

c.874_875insA

1 paper

NM_015114.3

p.R297*

c.889C>T

2 papers

NM_015114.3

p.K302Q

c.904A>C

2 papers

NM_015114.3

p.K302R

c.905A>G

1 paper

NM_015114.3

p.K312Q

c.934A>C

1 paper

NM_015114.3

p.K312R

c.935A>G

2 papers

NM_015114.3

p.R314W

c.940C>T