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

4 papers

NM_000051.4

p.D1467G

c.4400A>G

Surrounding Variants

1 paper

NM_000051.4

p.D1467E

c.4401C>A

1 paper

NM_000051.4

p.D1467E

c.4401C>G

2 papers

NM_000051.4

p.D1467D

c.4401C>T

1 paper

NM_000051.4

p.D1467fs

c.4399_4400fs

9 papers

NM_000051.4

p.V1468I

c.4402G>A

9 papers

NM_000051.4

p.R1466Q

c.4397G>A

6 papers

NM_000051.4

p.R1466P

c.4397G>C

1 paper

NM_000051.4

p.R1466L

c.4397G>T

1 paper

NM_000051.4

p.R1466delins

c.4397_4398delinsCG

1 paper

NM_000051.4

p.V1468D

c.4403T>A

7 papers

NM_000051.4

p.R1466G

c.4396C>G

49 papers

NM_000051.4

p.R1466*

c.4396C>T