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.I280T

c.839T>C

Surrounding Variants

5 papers

NM_000051.4

p.I280V

c.838A>G

3 papers

NM_000051.4

p.I280delFs

c.840delT

1 paper

NM_000051.4

p.E281Q

c.841G>C

2 papers

NM_000051.4

p.E281*

c.841G>T

1 paper

NM_000051.4

p.E281fs

c.841_842fs

1 paper

NM_000051.4

p.I279M

c.837T>G

6 papers

NM_000051.4

p.E281insFs

c.842_843insT

1 paper

NM_000051.4

p.E281V

c.842A>T

1 paper

NM_000051.4

p.E281Fs

c.842_843delinsTFs

1 paper

NM_000051.4

p.L282_Q284insFs

c.844_850dup7

1 paper

NM_000051.4

p.E281D

c.843A>C

1 paper

NM_000051.4

p.E281D

c.843A>T