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

6 papers

NM_000051.4

p.Q2802R

c.8405A>G

Surrounding Variants

1 paper

NM_000051.4

p.Q2802fs

c.8404_8405fs

3 papers

NM_000051.4

p.Q2802delFs

c.8405delA

1 paper

NM_000051.4

p.K2803fs

c.8407_8408fs

2 papers

NM_000051.4

p.C2801*

c.8403C>A

1 paper

NM_000051.4

p.K2803T

c.8408A>C

1 paper

NM_000051.4

p.C2801Y

c.8402G>A

1 paper

NM_000051.4

p.K2803N

c.8409G>C

1 paper

NM_000051.4

p.K2803N

c.8409G>T

1 paper

NM_000051.4

p.K2804delFs

c.8412delA

1 paper

NM_000051.4

p.K2804Q

c.8410A>C

1 paper

NM_000051.4

p.Q2800_C2801Fs

c.8400_8402delinsAAAAFs

1 paper

NM_000051.4

p.Q2800R

c.8399A>G