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

21 papers

NM_000051.4

p.Q2729H

c.8187A>T

Surrounding Variants

22 papers

NM_000051.4

p.Q2729H

c.8187A>C

2 papers

NM_000051.4

p.Q2729P

c.8186A>C

3 papers

NM_000051.4

p.Q2730K

c.8188C>A

2 papers

NM_000051.4

p.Q2730_V2731insAG

c.8188_8192ins6

1 paper

NM_000051.4

p.Q2730E

c.8188C>G

2 papers

NM_000051.4

p.Q2730*

c.8188C>T

14 papers

NM_000051.4

p.Q2730P

c.8189A>C

5 papers

NM_000051.4

p.Q2730R

c.8189A>G

2 papers

NM_000051.4

p.Q2729E

c.8185C>G

17 papers

NM_000051.4

p.Q2729*

c.8185C>T

1 paper

NM_000051.4

p.M2728I

c.8184G>A

2 papers

NM_000051.4

p.Q2730H

c.8190G>C