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

1 paper

NM_000051.4

p.Q2305H

c.6915G>T

Surrounding Variants

1 paper

NM_000051.4

p.Q2305H

c.6915G>C

2 papers

NM_000051.4

p.S2306fs

c.6916_6917fs

1 paper

NM_000051.4

p.Q2305delFs

c.6915delG

1 paper

NM_000051.4

p.Q2305fs

c.6913_6914fs

11 papers

NM_000051.4

p.Q2305*

c.6913C>T

7 papers

NM_000051.4

p.S2306delFs

c.6916_6917delAG

1 paper

NM_000051.4

p.E2304A

c.6911A>C

4 papers

NM_000051.4

p.L2307V

c.6919C>G

74 papers

NM_000051.4

p.L2307F

c.6919C>T

3 papers

NM_000051.4

p.L2307fs

c.6919_6920fs

2 papers

NM_000051.4

p.E2304Q

c.6910G>C

6 papers

NM_000051.4

p.E2304fs

c.6910_6911fs