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.M1Fs

c.3delinsTTAFs

Surrounding Variants

30 papers

NM_000051.4

p.M1I

c.3G>A

15 papers

NM_000051.4

p.M1I

c.3G>C

3 papers

NM_000051.4

p.S2insFs

c.4dupA

2 papers

NM_000051.4

p.M1_S2insFs

c.3_4insT

1 paper

NM_000051.4

p.M1_S2insFs

c.3_4insTA

15 papers

NM_000051.4

p.M1I

c.3G>T

1 paper

NM_000051.4

p.S2insFs

c.4_5ins4

1 paper

NM_000051.4

p.S2insFs

c.4_5insT

1 paper

NM_000051.4

p.S2R

c.4A>C

2 papers

NM_000051.4

p.S2G

c.4A>G

1 paper

NM_000051.4

p.S2C

c.4A>T

4 papers

NM_000051.4

p.S2delFs

c.5delG