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

2 papers

NM_000051.4

p.D48E

c.144T>A

Surrounding Variants

2 papers

NM_000051.4

p.D48E

c.144T>G

1 paper

NM_000051.4

p.D48A

c.143A>C

2 papers

NM_000051.4

p.D48G

c.143A>G

1 paper

NM_000051.4

p.D48delFs

c.144delT

1 paper

NM_000051.4

p.S49T

c.145T>A

1 paper

NM_000051.4

p.S49Y

c.146C>A

1 paper

NM_000051.4

p.S49insFs

c.146_147insA

135 papers

NM_000051.4

p.S49C

c.146C>G

8 papers

NM_000051.4

p.S49F

c.146C>T

1 paper

NM_000051.4

p.D48N

c.142G>A

1 paper

NM_000051.4

p.D48H

c.142G>C

1 paper

NM_000051.4

p.D48fs

c.142_143fs