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.K224*

c.670A>T

Surrounding Variants

1 paper

NM_000051.4

p.K224_S225insA

c.670_674ins3

1 paper

NM_000051.4

p.K224Q

c.670A>C

28 papers

NM_000051.4

p.K224E

c.670A>G

1 paper

NM_000051.4

p.K224T

c.671A>C

1 paper

NM_000051.4

p.E223E

c.669A>G

1 paper

NM_000051.4

p.E223D

c.669A>T

1 paper

NM_000051.4

p.K224M

c.671A>T

5 papers

NM_000051.4

p.E223G

c.668A>G

1 paper

NM_000051.4

p.E223V

c.668A>T

2 papers

NM_000051.4

p.K224K

c.672G>A

5 papers

NM_000051.4

p.K224N

c.672G>C

1 paper

NM_000051.4

p.K224_S225insFs

c.672_673insA