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.L542W

c.1625T>G

Surrounding Variants

1 paper

NM_000051.4

p.L542*

c.1625T>A

1 paper

NM_000051.4

p.L542S

c.1625T>C

1 paper

NM_000051.4

p.L542F

c.1626G>C

3 papers

NM_000051.4

p.T543A

c.1627A>G

1 paper

NM_000051.4

p.T543S

c.1627A>T

3 papers

NM_000051.4

p.T543I

c.1628C>T

1 paper

NM_000051.4

p.T543delFs

c.1629delT

1 paper

NM_000051.4

p.C541R

c.1621T>C

1 paper

NM_000051.4

p.T543T

c.1629T>G

1 paper

NM_000051.4

p.C540*

c.1620C>A

1 paper

NM_000051.4

p.L544M

c.1630T>A

1 paper

NM_000051.4

p.L544L

c.1630T>C