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

4 papers

NM_000051.4

p.E1592_E1593Splc

c.4777-2A>C

Surrounding Variants

3 papers

NM_000051.4

p.E1592_E1593Splc

c.4777-2A>T

2 papers

NM_000051.4

p.E1592_E1593Splc

c.4777-1G>A

1 paper

NM_000051.4

p.E1592_E1593Splc

c.4777-1G>C

1 paper

NM_000051.4

p.E1593K

c.4777G>A

1 paper

NM_000051.4

p.E1593fs

c.4777_4778fs

6 papers

NM_000051.4

p.E1593*

c.4777G>T

1 paper

NM_000051.4

p.E1593delFs

c.4778delA

1 paper

NM_000051.4

p.E1593fs

c.4777_4778fs

1 paper

NM_000051.4

p.E1593D

c.4779A>C

1 paper

NM_000051.4

p.E1593D

c.4779A>T

2 papers

NM_000051.4

p.I1594T

c.4781T>C

1 paper

NM_000051.4

p.E1592_E1593Splc

c.4777-8T>G