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.Q355R

c.1064A>G

Surrounding Variants

7 papers

NM_000051.4

p.Q355*

c.1063C>T

2 papers

NM_000051.4

p.Q355H

c.1065G>C

2 papers

NM_000051.4

p.Q355H

c.1065G>T

3 papers

NM_000051.4

p.Q355_V356Splc

c.1065+1G>A

5 papers

NM_000051.4

p.Q355_V356Splc

c.1065+1G>C

9 papers

NM_000051.4

p.Q355_V356Splc

c.1065+1G>T

2 papers

NM_000051.4

p.H354R

c.1061A>G

1 paper

NM_000051.4

p.Q355delFs

c.1063delC

2 papers

NM_000051.4

p.Q355_V356Splc

c.1065+2T>C

2 papers

NM_000051.4

p.Q355_V356Splc

c.1065+3A>G

1 paper

NM_000051.4

p.H354N

c.1060C>A

1 paper

NM_000051.4

p.H354insFs

c.1061dupA