Varaico: Literature-Extracted Genetic Variants

ATM

7,296 papers

RefSeq Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variet...

Pfam Domains

TANaa 8–112UCSCTelomere-length maintenance and DNA damage repair

TANaa 8–165UCSCTelomere-length maintenance and DNA damage repair

FATaa 2096–2489UCSCFAT domain

PI3_PI4_kinaseaa 2713–2962UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 3025–3056UCSCFATC domain

Gene Aliases

HGNC Name

ATM serine/threonine kinase

HGNC Previous Symbols

ATA; ATDC; ATC; ATD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000051.4

p.E518*

c.1552G>T

Surrounding Variants

1 paper

NM_000051.4

p.E518K

c.1552G>A

1 paper

NM_000051.4

p.E518insFs

c.1552_1553insT

1 paper

NM_000051.4

p.V519delFs

c.1555delG

1 paper

NM_000051.4

p.E518E

c.1554G>A

1 paper

NM_000051.4

p.V517D

c.1550T>A

1 paper

NM_000051.4

p.V517A

c.1550T>C

1 paper

NM_000051.4

p.V517G

c.1550T>G

7 papers

NM_000051.4

p.V519I

c.1555G>A

2 papers

NM_000051.4

p.V517I

c.1549G>A

1 paper

NM_000051.4

p.V519delFs

c.1556delT

3 papers

NM_000051.4

p.V519A

c.1556T>C

3 papers

NM_000051.4

p.L516*

c.1547T>A