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

5 papers

NM_000051.4

p.Q1416R

c.4247A>G

Surrounding Variants

5 papers

NM_000051.4

p.Q1416*

c.4246C>T

1 paper

NM_000051.4

p.I1418delFs

c.4252delA

1 paper

NM_000051.4

p.Y1415*

c.4245T>A

1 paper

NM_000051.4

p.Y1415*

c.4245T>G

1 paper

NM_000051.4

p.Y1415C

c.4244A>G

1 paper

NM_000051.4

p.Y1415delFs

c.4245delT

1 paper

NM_000051.4

p.I1418fs

c.4252_4253fs

1 paper

NM_000051.4

p.S1414Y

c.4241C>A

2 papers

NM_000051.4

p.S1414C

c.4241C>G

1 paper

NM_000051.4

p.S1414P

c.4240T>C

2 papers

NM_000051.4

p.L1419I

c.4255C>A

1 paper

NM_000051.4

p.L1419delFs

c.4257delT