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

3 papers

NM_000051.4

p.H269L

c.806A>T

Surrounding Variants

3 papers

NM_000051.4

p.H269R

c.806A>G

3 papers

NM_000051.4

p.H269Y

c.805C>T

1 paper

NM_000051.4

p.Q268P

c.803A>C

1 paper

NM_000051.4

p.Q268L

c.803A>T

4 papers

NM_000051.4

p.R270K

c.809G>A

1 paper

NM_000051.4

p.Q268fs

c.802_803fs

1 paper

NM_000051.4

p.Q268E

c.802C>G

25 papers

NM_000051.4

p.Q268*

c.802C>T

1 paper

NM_000051.4

p.R270R

c.810G>A

1 paper

NM_000051.4

p.R270S

c.810G>C

1 paper

NM_000051.4

p.R270S

c.810G>T

7 papers

NM_000051.4

p.L271I

c.811C>A