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.E390del1

c.1168_1169delGAA

Surrounding Variants

1 paper

NM_000051.4

p.I389K

c.1166T>A

3 papers

NM_000051.4

p.I389T

c.1166T>C

1 paper

NM_000051.4

p.I389R

c.1166T>G

2 papers

NM_000051.4

p.I389V

c.1165A>G

1 paper

NM_000051.4

p.I389M

c.1167A>G

1 paper

NM_000051.4

p.K388N

c.1164A>C

2 papers

NM_000051.4

p.K388N

c.1164A>T

1 paper

NM_000051.4

p.E390K

c.1168G>A

1 paper

NM_000051.4

p.E390Q

c.1168G>C

7 papers

NM_000051.4

p.E390*

c.1168G>T

2 papers

NM_000051.4

p.K388T

c.1163A>C

2 papers

NM_000051.4

p.E390A

c.1169A>C