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.R720Fs

c.2160delinsCAGGAAFs

Surrounding Variants

2 papers

NM_000051.4

p.L722insFs

c.2165_2166insT

1 paper

NM_000051.4

p.L722delFs

c.2165delT

16 papers

NM_000051.4

p.R720H

c.2159G>A

2 papers

NM_000051.4

p.R720S

c.2158C>A

1 paper

NM_000051.4

p.R720G

c.2158C>G

6 papers

NM_000051.4

p.R720C

c.2158C>T

1 paper

NM_000051.4

p.L721R

c.2162T>G

3 papers

NM_000051.4

p.S719*

c.2156C>A

1 paper

NM_000051.4

p.S719insFs

c.2157dupA

3 papers

NM_000051.4

p.S719*

c.2156C>G

1 paper

NM_000051.4

p.S719L

c.2156C>T

1 paper

NM_000051.4

p.L722L

c.2164T>C