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.H1518P

c.4553A>C

Surrounding Variants

1 paper

NM_000051.4

p.H1518fs

c.4552_4553fs

1 paper

NM_000051.4

p.H1518insFs

c.4552_4553ins10

1 paper

NM_000051.4

p.H1518insFs

c.4552_4553ins11

1 paper

NM_000051.4

p.H1518Y

c.4552C>T

1 paper

NM_000051.4

p.H1518H

c.4554T>C

1 paper

NM_000051.4

p.V1519delFs

c.4555delG

1 paper

NM_000051.4

p.V1519fs

c.4555_4556fs

1 paper

NM_000051.4

p.L1517P

c.4550T>C

1 paper

NM_000051.4

p.V1519A

c.4556T>C

1 paper

NM_000051.4

p.V1519insFs

c.4556_4557ins8

1 paper

NM_000051.4

p.V1519insFs

c.4556_4557ins13

1 paper

NM_000051.4

p.L1517V

c.4549C>G