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.R720C

c.2158C>T

Surrounding Variants

1 paper

NM_015114.3

p.R720S

c.2158C>A

4 papers

NM_015114.3

p.R720H

c.2159G>A

1 paper

NM_015114.3

p.E722fs

c.2164_2165fs

1 paper

NM_015114.3

p.E722insFs

c.2164dupG

1 paper

NM_015114.3

p.V729V

c.2187C>T

1 paper

NM_015114.3

p.S730S

c.2190G>A

2 papers

NM_015114.3

p.P691L

c.2072C>T

1 paper

NM_015114.3

p.K750Q

c.2248A>C

1 paper

NM_015114.3

p.K750R

c.2249A>G

1 paper

NM_015114.3

p.G667C

c.1999G>T

2 papers

NM_015114.3

p.S662C

c.1984A>T

6 papers

NM_015114.3

p.Q782*

c.2344C>T