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.L550V

c.1648C>G

Surrounding Variants

1 paper

NM_015114.3

p.G561R

c.1681G>C

3 papers

NM_015114.3

p.R536C

c.1606C>T

1 paper

NM_015114.3

p.E568D

c.1704G>T

1 paper

NM_015114.3

p.E568D

c.1704G>C

7 papers

NM_015114.3

p.L573V

c.1717C>G

4 papers

NM_015114.3

p.G585V

c.1754G>T

1 paper

NM_015114.3

p.D589N

c.1765G>A

1 paper

NM_015114.3

p.G595C

c.1783G>T

1 paper

NM_015114.3

p.S528N

c.1583G>A

2 papers

NM_015114.3

p.L527delFs

c.1579_1580delAG

1 paper

NM_015114.3

p.P516L

c.1547C>T

2 papers

NM_015114.3

p.G510*

c.1528G>T