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

3 papers

NM_000051.4

p.M1916I

c.5748G>C

Surrounding Variants

3 papers

NM_000051.4

p.M1916I

c.5748G>A

3 papers

NM_000051.4

p.M1916I

c.5748G>T

1 paper

NM_000051.4

p.R1917fs

c.5749_5750fs

4 papers

NM_000051.4

p.R1917*

c.5749A>T

3 papers

NM_000051.4

p.M1916T

c.5747T>C

1 paper

NM_000051.4

p.M1916_R1917del1

c.5748_5750delGAG

1 paper

NM_000051.4

p.M1916V

c.5746A>G

4 papers

NM_000051.4

p.R1917K

c.5750G>A

10 papers

NM_000051.4

p.R1917T

c.5750G>C

1 paper

NM_000051.4

p.R1917delFs

c.5751delA

1 paper

NM_000051.4

p.Y1915*

c.5745C>A

18 papers

NM_000051.4

p.R1918T

c.5753G>C