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.K24N

c.72G>C

Surrounding Variants

2 papers

NM_000051.4

p.K24K

c.72G>A

1 paper

NM_000051.4

p.K24N

c.72G>T

2 papers

NM_000051.4

p.K24T

c.71A>C

1 paper

NM_000051.4

p.K24R

c.71A>G

2 papers

NM_000051.4

p.K24M

c.71A>T

3 papers

NM_000051.4

p.K24delFs

c.72delG

20 papers

NM_000051.4

p.K24_K25Splc

c.72+1G>A

2 papers

NM_000051.4

p.K24_K25Splc

c.72+1G>T

1 paper

NM_000051.4

p.K24fs

c.70_71fs

1 paper

NM_000051.4

p.K24Q

c.70A>C

3 papers

NM_000051.4

p.K24E

c.70A>G

1 paper

NM_000051.4

p.K24*

c.70A>T