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

5 papers

NM_000051.4

p.V1260M

c.3778G>A

Surrounding Variants

1 paper

NM_000051.4

p.V1260delFs

c.3779delT

1 paper

NM_000051.4

p.V1260_R1262del3

c.3778_3785del9

2 papers

NM_000051.4

p.L1259M

c.3775C>A

1 paper

NM_000051.4

p.L1259_V1260insA

c.3775_3779ins3

1 paper

NM_000051.4

p.I1261T

c.3782T>C

1 paper

NM_000051.4

p.H1258R

c.3773A>G

1 paper

NM_000051.4

p.R1262*

c.3784A>T

4 papers

NM_000051.4

p.H1258N

c.3772C>A

3 papers

NM_000051.4

p.R1262I

c.3785G>T

1 paper

NM_000051.4

p.R1262R

c.3786A>G

1 paper

NM_000051.4

p.P1257L

c.3770C>T

2 papers

NM_000051.4

p.S1263G

c.3787A>G