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.R805P

c.2414G>C

Surrounding Variants

10 papers

NM_000051.4

p.R805Q

c.2414G>A

1 paper

NM_000051.4

p.R805R

c.2415A>C

2 papers

NM_000051.4

p.R805R

c.2415A>G

2 papers

NM_000051.4

p.R805G

c.2413C>G

86 papers

NM_000051.4

p.R805*

c.2413C>T

1 paper

NM_000051.4

p.L806*

c.2417T>A

1 paper

NM_000051.4

p.L804R

c.2411T>G

1 paper

NM_000051.4

p.L804M

c.2410C>A

2 papers

NM_000051.4

p.L804fs

c.2410_2411fs

1 paper

NM_000051.4

p.L804delFs

c.2411_2412delTG

7 papers

NM_000051.4

p.L806F

c.2418G>C

7 papers

NM_000051.4

p.L806F

c.2418G>T