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.K1972I

c.5915A>T

Surrounding Variants

1 paper

NM_000051.4

p.K1972T

c.5915A>C

1 paper

NM_000051.4

p.K1972R

c.5915A>G

4 papers

NM_000051.4

p.R1973G

c.5917A>G

1 paper

NM_000051.4

p.R1973fs

c.5917_5918fs

2 papers

NM_000051.4

p.R1973delFs

c.5917delA

1 paper

NM_000051.4

p.E1971G

c.5912A>G

3 papers

NM_000051.4

p.R1973K

c.5918G>A

1 paper

NM_000051.4

p.R1973T

c.5918G>C

1 paper

NM_000051.4

p.R1973I

c.5918G>T

4 papers

NM_000051.4

p.E1971K

c.5911G>A

4 papers

NM_000051.4

p.R1973Splc

c.5918+1G>A

2 papers

NM_000051.4

p.E1971fs

c.5911_5912fs