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

1–12 of 122 variants

7 papers

NM_015114.3

p.L573V

c.1717C>G

6 papers

NM_015114.3

p.Q782*

c.2344C>T

4 papers

NM_015114.3

p.A109P

c.325G>C

4 papers

NM_015114.3

p.V229G

c.686T>G

4 papers

NM_015114.3

p.G585V

c.1754G>T

4 papers

NM_015114.3

p.S647N

c.1940G>A

4 papers

NM_015114.3

p.R720H

c.2159G>A

3 papers

NM_015114.3

p.H122Y

c.364C>T

3 papers

NM_015114.3

p.Q148E

c.442C>G

3 papers

NM_015114.3

p.G201W

c.601G>T

3 papers

NM_015114.3

p.R536C

c.1606C>T

2 papers

NM_015114.3

p.R236*

c.706C>T